Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.L1233insFs
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CNTNAP2

NM_014141.6:p.L1233insFs

Associated Papers

A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.

Naudhani S et al.

Molecular Syndromology, 2023

Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.

D'Onofrio G et al.

Human Genetics, 2023

37183190 (PubMed )
Supplement: 439_2023_2552_MOESM1_ESM.xlsx › Supplementary_Table_2
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