Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R835W
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KCNH2

NM_000238.4:p.R835W

Associated Papers

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list

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

Anderson CL et al.

Nature Communications, 2014

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.

Schweigmann U et al.

Plos One, 2014

[Neonatal forms of congenital long QT syndrome].

Lupoglazoff JM et al.

Archives Des Maladies Du Coeur Et Des Vaisseaux, 2004

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

Lupoglazoff JM et al.

Journal of the American College of Cardiology, 2004

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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."