Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.A201E
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SCN1A

NM_001165963.4:p.A201E

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

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

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

Do TT et al.

Journal of Clinical Neurology (seoul, Korea), 2017

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