Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S600R
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KCNH2

NM_000238.4:p.S600R

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

Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Du F et al.

Medicine, 2020

Postmortem Analysis of 4 Mutation Hotspots of KCNQ1, KCNH2, and SCN5A Genes in Sudden Unexplained Death in Southwest of China.

Jia PL et al.

The American Journal of Forensic Medicine and Pathology, 2018

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