Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.S106F
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SCN1A

NM_001165963.4:p.S106F

Associated Papers

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Martins Custodio H et al.

Brain : a Journal of Neurology, 2023

37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File007.pdf

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Co-occurring malformations of cortical development and SCN1A gene mutations.

Barba C et al.

Epilepsia, 2014

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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."