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Intersegment Contacts of Potentially Damaging...
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