Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.S1656P
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SCN2A

NM_001040142.2:p.S1656P

Associated Papers

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Tan M et al.

Epilepsia, 2026

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

Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.

Suddaby JS et al.

Psychiatric Genetics, 2019

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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."