Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.G232Splc
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SCN1A

NM_001165963.4:p.G232Splc

Associated Papers

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Strong_segregation_support

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Davila S et al.

Nature Genetics, 2004

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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."