Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q357H
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KCNQ1

NM_000218.3:p.Q357H

Associated Papers

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.

Jons C et al.

Journal of Cardiovascular Electrophysiology, 2009

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ et al.

Circulation, 2007

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."