Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G189fs
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KCNQ1

NM_000218.3:p.G189fs

Associated Papers

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

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

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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."