Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A636fs
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KCNQ1

NM_000218.3:p.A636fs

Associated Papers

Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Horr S et al.

Journal of Cardiovascular Electrophysiology, 2011

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

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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."