Article

Brugada syndrome masked by complete left bundle branch block. A clinical and functional study of its association with the p.1449Y>H SCN5A variant.

2021-03-10

Abstract excerpt

SCN5A gene variants are associated with both Brugada syndrome and conduction disturbances, sometimes expressing an overlapping phenotype. Functional consequences of SCN5A variants assessed by patch clamp electrophysiology are particularly beneficial for a correct pathogenic classification and are related to disease penetrance and severity. Here, we identify a novel SCN5A loss of function variant, p.1449Y>H, which...

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Literature Corpus work: 807e2106-bfb6-59a5-a2d2-a04ef40c0b24
DOI: 10.22541/au.161540932.25525802/v1

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