Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.W305S
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KCNA3

NM_002232.5:p.W305S

Associated Papers

Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.

Jons C et al.

Science Translational Medicine, 2011

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.

Jons C et al.

Journal of Cardiovascular Electrophysiology, 2009

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

Neyroud N et al.

European Journal of Human Genetics : Ejhg, 0

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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."