Gene Frequency
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242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread Academic Article
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A 23bp Insertion in the Endothelial Protein C Receptor (EPCR) Gene Impairs EPCR Function Academic Article
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A DNA marker closely linked to the factor IX (haemophilia B) gene Academic Article
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A Reanalysis of Protein Polymorphism in Drosophila Melanogaster, D. Simulans, D. Sechellia and D. Mauritiana: Effects of Population Size and Selection Academic Article
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A comprehensive study of genic variation in natural populations of Drosophila melanogaster. VI. Patterns and processes of genic divergence between D. melanogaster and its sibling species, Drosophila simulans. Academic Article
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A genome-wide association study of sporadic ALS in a homogenous Irish population Academic Article
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A molecular genetic study of factor XI deficiency Academic Article
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A novel candidate region for ALS on chromosome 14q11.2 Academic Article
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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia Academic Article
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AGTR1 gene variation: Association with depression and frontotemporal morphology Academic Article
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APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia Academic Article
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Activation of platelets by sera containing igg1 heparin-dependent antibodies: an explanation for the predominance of the Fcγrlla “low responder” (his131) gene in patients with heparin-induced thrombocytopenia Academic Article
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Adrenergic alpha 2C receptor genomic organization: Association study in adult ADHD Academic Article
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Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population Academic Article
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Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4Rgenes to obesity in Mexican children Academic Article
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Angiogenin Levels and ANG Genotypes: Dysregulation in Amyotrophic Lateral Sclerosis Academic Article
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Anti-Fibrillarin Antibody in African American Patients with Systemic Sclerosis: Immunogenetics, Clinical Features, and Survival Analysis Academic Article
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Assessing the effects of 35 European-derived BMI-associated SNPs in Mexican children Academic Article
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Association BetweenNRASandBRAFMutational Status and Melanoma-Specific Survival Among Patients With Higher-Risk Primary Melanoma Academic Article
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Association between ADIPOQ gene polymorphisms and the risk of new-onset diabetes mellitus after liver transplantation Academic Article
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Association between C reactive protein and coronary heart disease: mendelian randomisation analysis based on individual participant data Academic Article
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Association between the FTO rs9939609 polymorphism and the metabolic syndrome in a non-Caucasian multi-ethnic sample Academic Article
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Association between three functional polymorphisms of the dopamine D2 receptor gene and polydipsia in schizophrenia Academic Article
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Association betweenCOMT Val158Metand psychiatric disorders: A comprehensive meta-analysis Academic Article
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Association of BRM promoter polymorphisms and esophageal adenocarcinoma outcome Academic Article
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Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events Academic Article
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Association of Granulomatosis With Polyangiitis (Wegener's) WithHLA-DPB1*04andSEMA6AGene Variants: Evidence From Genome-Wide Analysis Academic Article
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Association of Melanin-Concentrating Hormone Receptor 1 5′ Polymorphism With Early-Onset Extreme Obesity Academic Article
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Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: Evidence for additional functions of EYS Academic Article
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Association of polymorphisms of the tryptophan hydroxylase 2 gene with risk for bipolar disorder or suicidal behavior Academic Article
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Association of renin–angiotensin and endothelial nitric oxide synthase gene polymorphisms with blood pressure progression and incident hypertension: prospective cohort study Academic Article
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Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS Academic Article
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Association study of tryptophan hydroxylase 2 gene polymorphisms in bipolar disorder patients with panic disorder comorbidity Academic Article
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Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects Academic Article
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Associations of the FTO rs9939609 variant with discrete body fat depots and dietary intake in a multi-ethnic cohort Academic Article
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Bipolar disorder and 1513A>C P2RX7 polymorphism frequency Academic Article
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Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder Academic Article
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Breast cancer prognostic significance of a single nucleotide polymorphism in the proximal androgen response element of the prostate specific antigen gene promoter Academic Article
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CARD15 and IL23R influences Crohnʼs disease susceptibility but not disease phenotype in a Brazilian population Academic Article
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Candidate genetic variants in the fibrinogen, methylenetetrahydrofolate reductase, and intercellular adhesion molecule-1 genes and plasma levels of fibrinogen, homocysteine, and intercellular adhesion molecule-1 among various race/ethnic groups: Data from the Women's Genome Health Study Academic Article
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Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans Academic Article
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Characterization of DCTN1 genetic variability in neurodegeneration Academic Article
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Characterization of tumor necrosis factor–α block haplotypes associated with susceptibility to chronic venous leg ulcers in Caucasian patients Academic Article
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Cholinesterase Phenotyping: Clinical Aspects and Laboratory Applications Academic Article
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Clinical evaluation of a hemochromatosis next-generation sequencing gene panel Academic Article
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Collagen platelet receptor polymorphisms integrin alpha2beta1 C807T and GPVI Q317L and risk of ischemic stroke Academic Article
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Combined effects of MC4R and FTO common genetic variants on obesity in European general populations Academic Article
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Comment on "A Common Genetic Variant Is Associated with Adult and Childhood Obesity" Academic Article
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Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations Academic Article
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Common polymorphisms of cyclooxygenase-2 and prostaglandin E2 receptor and increased risk for acute coronary syndrome in coronary artery disease Academic Article
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Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus Academic Article
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Comprehensive Analysis of Genomic Variation in the
LPA
Locus and Its Relationship to Plasma Lipoprotein(a) in South Asians, Chinese, and European Caucasians Academic Article
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Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies Academic Article
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Contribution of BDNF and DRD2 genetic polymorphisms to continued opioid use in patients receiving methadone treatment for opioid use disorder: an observational study Academic Article
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Cost Effectiveness ofEML4-ALKFusion Testing and First-Line Crizotinib Treatment for Patients With AdvancedALK-Positive Non–Small-Cell Lung Cancer Academic Article
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DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: Where are the patients? Academic Article
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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Academic Article
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Decay of individual Escherichia coli trp messenger RNA molecules is sequentially ordered Academic Article
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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene Academic Article
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Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis Academic Article
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Detecting recent speciation events: the case of the finless porpoise (genus Neophocaena) Academic Article
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Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan Academic Article
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Dinucleotide repeat polymorphism at the D21S65 locus Academic Article
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals Academic Article
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ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study Academic Article
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Effects of Source of DNA on Genotyping Success Rates and Allele Percentages in the Preschoolers with Attention-Deficit/Hyperactivity Disorder Treatment Study (PATS) Academic Article
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Electrophoretic variants of human 6-phosphogluconate dehydrogenase: population and family studies and description of a new variant Academic Article
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Ethnicity Does Not Affect the Homocysteine-Lowering Effect of B-Vitamin Therapy in Singaporean Stroke Patients Academic Article
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Evaluating the effects of historic bottleneck events: an assessment of microsatellite variability in the endangered, North Atlantic right whale Academic Article
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Evaluating the transferability of 15 European-derived fasting plasma glucose SNPs in Mexican children and adolescents Academic Article
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Evaluation of the Disease Liability of CFTR Variants Academic Article
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Evidence for a link between local and seasonal cycles in gene frequencies and latitudinal gene clines in a cyclic parthenogen Academic Article
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Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index Academic Article
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Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency Academic Article
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Extremes of Unexplained Variation as a Phenotype Academic Article
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Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis Academic Article
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Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans Academic Article
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Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests Academic Article
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Fine-mapping of 98 obesity loci in Mexican children Academic Article
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Fine-scale genetic analyses reveal unexpected spatial-temporal heterogeneity in two natural populations of the commercial mushroom Agaricus bisporus Academic Article
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Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. Academic Article
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Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome Academic Article
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GENETIC HETEROGENEITY WITHIN ELECTROPHORETIC "ALLELES" OF XANTHINE DEHYDROGENASE IN DROSOPHILA PSEUDOOBSCURA Academic Article
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GENIC VARIATION IN ABUNDANT SOLUBLE PROTEINS OF DROSOPHILA MELANOGASTER AND DROSOPHILA PSEUDOOBSCURA Academic Article
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Gene-Centric Meta-Analysis of Lipid Traits in African, East Asian and Hispanic Populations Academic Article
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Genetic Determinants of “Cognitive Impairment, No Dementia” Academic Article
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Genetic Risk Evaluation in Wet Age-Related Macular Degeneration Treatment Response Academic Article
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Genetic contribution to waist-to-hip ratio in Mexican children and adolescents based on 12 loci validated in European adults Academic Article
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Genetic determinants of right-ventricular remodeling after tetralogy of Fallot repair Academic Article
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Genetic interaction between α4 and β2 subunits of high affinity nicotinic receptor: analysis in schizophrenia Academic Article
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Genetic risk factors associated with lipid-lowering drug-induced myopathies Academic Article
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Genetic variants of MARCO are associated with susceptibility to pulmonary tuberculosis in a Gambian population Academic Article
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Genetic variation of the St. Lawrence beluga whale population assessed by DNA fingerprinting Academic Article
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Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci Academic Article
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Genome-Wide Association Studies—Data Generation, Storage, Interpretation, and Bioinformatics Academic Article
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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Academic Article
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Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations Academic Article
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Genome-wide association study identifies 48 common genetic variants associated with handedness Academic Article
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Genome-wide association study of delay discounting in 23,217 adult research participants of European ancestry Academic Article
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Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia Academic Article
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Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects Academic Article
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Immunocytological test to detect adult carriers of (--SEA/) deletional α-thalassaemia Academic Article
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Impact of ACE2 gene polymorphism on antihypertensive efficacy of ACE inhibitors Academic Article
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Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity Academic Article
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Impact of a Genetic Risk Score on Myocardial Infarction Risk Across Different Ethnic Populations Academic Article
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Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population Academic Article
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Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences Academic Article
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Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies Academic Article
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Individual common variants exert weak effects on the risk for autism spectrum disorders Academic Article
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Interaction between GPR120 p.R270H loss-of-function variant and dietary fat intake on incident type 2 diabetes risk in the D.E.S.I.R. study Academic Article
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Investigation on ERCC5 genetic polymorphisms and the development of gastric cancer in a Chinese population Academic Article
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Is serotonin transporter polymorphism (5-HTTLPR) allele status a predictor for obsessive-compulsive disorder? A meta-analysis Academic Article
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JAK2V617F mutation for the early diagnosis of Ph− myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis Academic Article
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Lack of Association of Ghrelin Precursor Gene Variants and Percentage Body Fat or Serum Lipid Profiles Academic Article
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease Academic Article
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Linkage disequilibrium and modification of risk for Huntington disease. Academic Article
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Local Frequency Dependence and Global Coexistence Academic Article
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Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi–like features Academic Article
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Low genic variation in male-reproductive-tract proteins of Drosophila melanogaster and D. simulans. Academic Article
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Management of Inheritedvon Willebrand Disease in Italy: Results from the Retrospective Study on 1234 Patients Academic Article
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Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease Academic Article
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Mendelian randomization of blood lipids for coronary heart disease Academic Article
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Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Academic Article
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Meta-genome-wide association studies identify a locus on chromosome 1 and multiple variants in the MHC region for serum C-peptide in type 1 diabetes Academic Article
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Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis Academic Article
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Mineralocorticoid receptor genotype moderates the association between physical neglect and serum BDNF Academic Article
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Modifier effects in autism at the MAO-A and DBH loci Academic Article
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Moyamoya Disease Susceptibility Variant
RNF213
p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis Academic Article
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NAT2 genetic polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in Chinese community population Academic Article
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Neuronal Correlates of Brain-derived Neurotrophic Factor Val66Met Polymorphism and Morphometric Abnormalities in Bipolar Disorder Academic Article
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New Locus for Skin Intrinsic Fluorescence in Type 1 Diabetes Also Associated With Blood and Skin Glycated Proteins Academic Article
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No Association between the 20210 G/A Prothrombin Gene Mutation and Premature Coronary Artery Disease Academic Article
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Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. Academic Article
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Nucleotide Variation in the Egfr Locus of Drosophila melanogaster Academic Article
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Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders Academic Article
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PedSplit: pedigree management for stratified analysis Academic Article
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Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution Academic Article
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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study Academic Article
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Platelet glycoprotein Ibα Kozak polymorphism is associated with an increased risk of ischemic stroke Academic Article
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Polymorphisms in the Amino Acid Transporter Solute Carrier Family 6 (Neurotransmitter Transporter) Member 14 Gene Contribute to Polygenic Obesity in French Caucasians Academic Article
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Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations Academic Article
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RAD51 polymorphisms and breast cancer risk Academic Article
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Rank-based genome-wide analysis reveals the association of Ryanodine receptor-2 gene variants with childhood asthma among human populations Academic Article
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Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes Academic Article
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease Academic Article
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Real-Time PCR Assay for Rapid Detection and Analysis of PfCRT Haplotypes of Chloroquine-Resistant
Plasmodium falciparum
Isolates from India Academic Article
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Replication of an Egfr-Wing Shape Association in a Wild-Caught Cohort of Drosophila melanogaster Academic Article
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Resequencing Genomic DNA of Patients With Severe Hypertriglyceridemia (MIM 144650) Academic Article
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Role of Macrophage Migration Inhibitory Factor in Granulomatosis With Polyangiitis Conference Paper
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SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts Academic Article
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SUBSTRATE-SPECIFIC ENZYME VARIATION IN NATURAL POPULATIONS OF DROSOPHILA PSEUDOOBSCURA Academic Article
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Serotonin transporter allelic variation in mothers predicts maternal sensitivity, behavior and attitudes toward 6-month-old infants Academic Article
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Sex solves Haldane’s dilemma Academic Article
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Sex/Gender Modifies the Association Between the MC4R p.Ile269Asn Mutation and Type 2 Diabetes in the Mexican Population Academic Article
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Single nucleotide polymorphisms in the neuropeptide Y2 receptor (NPY2R) gene and association with severe obesity in French white subjects Academic Article
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Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada Academic Article
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Spatial patterns of neutral and functional genetic variations reveal patterns of local adaptation in raccoon (Procyon lotor) populations exposed to raccoon rabies Academic Article
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Stabilizing selection on microsatellite allele length at arginine vasopressin 1a receptor and oxytocin receptor loci Academic Article
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TCF7L2 is associated with type 2 diabetes in nonobese individuals from Tunisia Academic Article
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TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis Academic Article
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TNF-α −308 G/A polymorphism and responsiveness to TNF-α blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis Academic Article
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Testing the Infinitely Many Genes Model for the Evolution of the Bacterial Core Genome and Pangenome Academic Article
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The Effect of Chromosome 9p21 Variants on Cardiovascular Disease May Be Modified by Dietary Intake: Evidence from a Case/Control and a Prospective Study Academic Article
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The Fat-Mass and Obesity-Associated (FTO) gene, physical activity, and risk of incident cardiovascular events in white women Academic Article
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The GABA A-Receptor γ2 (GABRG2) Gene in obsessive-compulsive disorder Academic Article
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The T-786→C Mutation in Endothelial Nitric Oxide Synthase Is Associated With Hypertension Academic Article
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The effect of iron status on vascular health Academic Article
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The functional variant rs1048990 in PSMA6 is associated with susceptibility to myocardial infarction in a Chinese population Academic Article
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The prospects for polymorphisms shared between species Academic Article
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The variance of linkage disequilibrium between three loci in a finite population Academic Article
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Towards a genetic architecture of cryptic genetic variation and genetic assimilation: The contribution of K. G. Bateman Academic Article
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Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups Academic Article
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Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population Academic Article
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Tumor Necrosis Factor Alpha Gene Polymorphism Associated with Increased Susceptibility to Venous Leg Ulceration Academic Article
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Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium Academic Article
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Universal Newborn Screening for Hb H Disease in California Academic Article
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Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia Academic Article
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Vascular Endothelial Growth Factor Polymorphisms and Esophageal Cancer Prognosis Academic Article
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α-Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis Academic Article
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β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation Academic Article