Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.K897R
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KCNH2

NM_000238.4:p.K897R

Associated Papers

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Soh MS et al.

Annals of Clinical and Translational Neurology, 2021

Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

Chang RK et al.

The Journal of Pediatrics, 2014

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

Current pharmacogenomic studies on hERG potassium channels.

He FZ et al.

Trends in Molecular Medicine, 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."