Varaico: Literature-Extracted Genetic Variants

Gene:SCN2A
Variant:p.A108V
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SCN2A

NM_001040142.2:p.A108V

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

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Bahl S et al.

Orphanet Journal of Rare Diseases, 2020

33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
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