Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.C1542R
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SCN2A

NM_001040142.2:p.C1542R

Associated Papers

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.

Sanri A et al.

Brain & Development, 2026

Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders.

Zhang Y et al.

Iscience, 2025

Noncoding de novo mutations in SCN2A are associated with autism spectrum disorders.

Zhang Y et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."