Journal article
Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel
Abstract
Over 1,500 missense variants of sodium channel hNav1.5, which are reported in the ClinVar database, are associated with cardiac diseases. For most of the variants, the clinical significance is uncertain (VUS), not provided (NP), or has conflicting interpretations of pathogenicity (CIP). Reclassifying these variants as pathogenic/likely pathogenic (P/LP) variants is important for diagnosing genotyped patients. In our earlier work, several …
Authors
Korkosh VS; Zaytseva AK; Kostareva AA; Zhorov BS
Journal
Frontiers in Pharmacology, Vol. 12, ,
Publisher
Frontiers
DOI
10.3389/fphar.2021.756415
ISSN
1663-9812