Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R1051Splc
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KCNH2

NM_000238.4:p.R1051Splc

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

Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Liu C et al.

Forensic Science International, 2013

[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].

Zhao QH et al.

Fa Yi Xue Za Zhi, 2012

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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."