Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.S294F
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SCN2A

NM_001040142.2:p.S294F

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

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

Olson HE et al.

Annals of Neurology, 2017

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