Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.I567S
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KCNH2

NM_000238.4:p.I567S

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

Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.

Dotzler SM et al.

Circulation, 2021

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

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W et al.

Journal of Cardiovascular Electrophysiology, 2003

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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."