Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

Functional evaluation of gene mutations in Long QT Syndrome: strength of evidence from in vitro assays for deciphering variants of uncertain significance

Abstract Background Genetic screening is now commonplace for patients suspected of having inherited cardiac conditions. Variants of uncertain significance (VUS) in disease-associated genes pose problems for the diagnostician and reliable methods for evaluating VUS function are required. Although fun...

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Bibliographic Details
Main Authors: Jules C. Hancox, Alan G. Stuart, Stephen C. Harmer
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Journal of Congenital Cardiology
Subjects:
Arrhythmia
Channelopathy
hERG
KCNH2
KCNQ1
Long QT syndrome
Online Access:http://link.springer.com/article/10.1186/s40949-020-00037-9

Internet

http://link.springer.com/article/10.1186/s40949-020-00037-9

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