Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L893*
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SCN1A

NM_001165963.4:p.L893*

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

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Xu X et al.

Human Mutation, 2015

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

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