Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.A130V
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PRRT2

NM_145239.3:p.A130V

Associated Papers

Human catalase, its polymorphisms, regulation and changes of its activity in different diseases.

Kodydková J et al.

Folia Biologica, 2014

Channelopathies from mutations in the cardiac sodium channel protein complex.

Adsit GS et al.

Journal of Molecular and Cellular Cardiology, 2013

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

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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."