Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D898Splc
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KCNH2

NM_000238.4:p.D898Splc

Associated Papers

Prioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.

Leung HT et al.

Pediatric Cardiology, 2024

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.

Rayani K et al.

European Journal of Human Genetics : Ejhg, 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."