Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.W563*
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KCNH2

NM_000238.4:p.W563*

Associated Papers

Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.

Stava TT et al.

Clinical Genetics, 2024

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Seethala S et al.

Journal of the American Heart Association, 2015

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

Berge KE et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."