Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.C597Y
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SCN5A

NM_000335.5:p.C597Y

Associated Papers

Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

Robyns T et al.

European Journal of Human Genetics : Ejhg, 2017

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

Le Scouarnec S et al.

Human Molecular Genetics, 2015

Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity.

Yang P et al.

European Journal of Human Genetics : Ejhg, 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."