Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L1341R
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SCN2A

NM_001040142.2:p.L1341R

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

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach.

An JY et al.

Translational Psychiatry, 2014

24893065 (PubMed )
Supplement: tp201438x3.xls › De_novo_variants
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