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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN5A

Variant:p.P566L

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SCN5A

NM_000335.5:p.P566L

hg38:chr3:38603905 G>A

Associated Papers

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

10973849 (PubMed )

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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."