Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.A1333T
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SCN2A

NM_001040142.2:p.A1333T

Associated Papers

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Crawford K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf

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

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE et al.

Annals of Neurology, 2017

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