Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G643A
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KCNQ1

NM_000218.3:p.G643A

Associated Papers

Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

Eldstrom J et al.

The Journal of General Physiology, 2010

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

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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."