Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.C1731Y
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SCN2A

NM_001040142.2:p.C1731Y

Associated Papers

Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.

DiStefano N et al.

Journal of Clinical Medicine, 2025

Further delineation of phenotypic spectrum of SCN2A-related disorder.

Richardson R et al.

American Journal of Medical Genetics. Part A, 2022

Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.

Zhang Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Location: A surrogate for personalized treatment of sodium channelopathies.

Holland KD et al.

Annals of Neurology, 2018

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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."