Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.W248L
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KCNQ1

NM_000218.3:p.W248L

Associated Papers

Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

Harmer SC et al.

The Biochemical Journal, 2014

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."