subject area of
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- Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome Journal Articles
- Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization Journal Articles
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- Severe chorioretinal atrophy in Boucher-Neuhauser syndrome Journal Articles