Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.G1576delFs
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SCN2A

NM_001040142.2:p.G1576delFs

Associated Papers

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

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
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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."