Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.V822L
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KCNH2

NM_000238.4:p.V822L

Associated Papers

Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Yee LA et al.

Journal of the American Heart Association, 2022

36102233 (PubMed )
Supplement: JAH3-11-e025108-s001.pdf

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

Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.

Szperl M et al.

Journal of Applied Genetics, 2018

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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."