Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.R102Q
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SCN2A

NM_001040142.2:p.R102Q

Associated Papers

Precision medicine for sodium channelopathy-related autism and epilepsy.

Robinson M et al.

Trends in Molecular Medicine, 2025

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

DiStefano N et al.

Journal of Clinical Medicine, 2025

Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions.

Gao Y et al.

Nature Communications, 2024

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.

Callaghan DB et al.

Clinical Genetics, 2019

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
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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."