Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L1775P
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SCN1A

NM_001165963.4:p.L1775P

Associated Papers

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2

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

Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome.

Jiménez-Arredondo RE et al.

Genetics and Molecular Research : Gmr, 2017

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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."