Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A201V
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SCN1A

NM_001165963.4:p.A201V

Associated Papers

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Gallagher D et al.

Epilepsia, 2024

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

de Lange IM et al.

Journal of Medical Genetics, 2019

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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."