Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.L181F
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SCN2A

NM_001040142.2:p.L181F

Associated Papers

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.

Granata P et al.

Bmc Genomics, 2024

39654053 (PubMed )
Supplement: 12864_2024_11077_MOESM1_ESM.pdf

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Berg AT et al.

Brain : a Journal of Neurology, 2024

38651838 (PubMed )
Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1
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