Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V129Splc
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KCNQ1

NM_000218.3:p.V129Splc

Associated Papers

Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.

Zhou H et al.

Cardiology in the Young, 2016

[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].

Zhou H et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2015

A Common Mutation of Long QT Syndrome Type 1 in Japan.

Itoh H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

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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."