Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A336fs
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KCNQ1

NM_000218.3:p.A336fs

Associated Papers

Molecular pathogenesis of long QT syndrome type 1.

Wu J et al.

Journal of Arrhythmia, 2016

Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Mousavi Nik A et al.

Frontiers in Cellular Neuroscience, 2015

A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

Ohno S et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

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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."