Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Y1628*
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SCN1A

NM_001165963.4:p.Y1628*

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

A catalog of SCN1A variants.

Lossin C

Brain & Development, 2009

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Nabbout R et al.

Neurology, 2003

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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."