Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S1040G
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KCNH2

NM_000238.4:p.S1040G

Associated Papers

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

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

Gibbs C et al.

Journal of the American Heart Association, 2018

30369311 (PubMed )
Supplement: JAH3-7-e009706-s001.pdf

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL et al.

Nature Communications, 2014

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac potassium channel dysfunction in sudden infant death syndrome.

Rhodes TE et al.

Journal of Molecular and Cellular Cardiology, 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."