Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.V1163delFs
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SCN1A

NM_001165963.4:p.V1163delFs

Associated Papers

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Gonsales MC et al.

Frontiers in Neurology, 2019

31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

Sun H et al.

Journal of Human Genetics, 2010

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