Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.M60L
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KCNH2

NM_000238.4:p.M60L

Associated Papers

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.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

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

Refsgaard L et al.

European Journal of Human Genetics : Ejhg, 2012

22378279 (PubMed )
Supplement: ejhg201223x1.doc
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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."