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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN11A

Variant:p.E818K

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SCN11A

NM_001349253.2:p.E818K

hg38:chr3:38894916 C>T

Associated Papers

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Demos MK et al.

Orphanet Journal of Rare Diseases, 2014

24468074 (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."