Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A753S
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KCNH2

NM_000238.4:p.A753S

Associated Papers

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.

Liu H et al.

Pacing and Clinical Electrophysiology : Pace, 2025

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

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation.

Gibbs C et al.

Journal of the American Heart Association, 2018

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."