Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S1054insFs
Back to variants list

SCN5A

NM_000335.5:p.S1054insFs

Associated Papers

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H et al.

Annals of Medicine, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."