A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome

Modern sequencing technologies have revolutionized our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUSs). The aim of this study was to investigate the utility of an automated pa...

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Bibliographic Details
Main Authors: Farr, J. (Author), Harrison, S.M (Author), Hill, A.P (Author), Ingles, J. (Author), Jiang, C. (Author), Kroncke, B.M (Author), Ng, C.-A (Author), Richardson, E. (Author), Thomson, K.L (Author), Ullah, R. (Author), Vandenberg, J.I (Author)
Format: Article
Language:English
Published: Cell Press 2022
Subjects:
arrhythmia
human ether-a-go-go-related gene
KCNH2
long QT syndrome
patch-clamp electrophysiology
variant classification
variants of uncertain significance
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