Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.P1157L
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KCNH2

NM_000238.4:p.P1157L

Associated Papers

H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

Farrugia A et al.

International Journal of Molecular Sciences, 2021

Sudden infant death syndrome and inherited cardiac conditions.

Baruteau AE et al.

Nature Reviews. Cardiology, 2017

Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.

Wang S et al.

Forensic Science International, 2017

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

Anderson CL et al.

Nature Communications, 2014

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.

Andreasen C et al.

The Canadian Journal of Cardiology, 2013

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Sudden infant death syndrome: how significant are the cardiac channelopathies?

Tester DJ et al.

Cardiovascular Research, 2005

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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."