Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.D1080N
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SCN10A

NM_006514.4:p.D1080N

Associated Papers

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Abou Ziki MD et al.

Clinical Genetics, 2018

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

Hu D et al.

Journal of the American College of Cardiology, 2014

Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis.

Velasco E et al.

Electrophoresis, 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."