Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.F1612_S1613insFs
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SHANK3

NM_001372044.2:p.F1612_S1613insFs

Associated Papers

Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants.

Eser M et al.

Brain & Development, 2025

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Wayhelova M et al.

Orphanet Journal of Rare Diseases, 2024

38321498 (PubMed )
Supplement: 13023_2024_3056_MOESM5_ESM.xlsx › All_variants
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