Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L618I
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SCN5A

NM_000335.5:p.L618I

Associated Papers

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.

Makielski JC et al.

Circulation Research, 2003

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

Ye B et al.

Physiological Genomics, 2003

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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."