Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A924T
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SCN1A

NM_001165963.4:p.A924T

Associated Papers

Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?

Marques P et al.

Epilepsy Research, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

Depienne C et al.

Journal of Medical Genetics, 2009

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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."