Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.Q392insFs
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CNTNAP2

NM_014141.6:p.Q392insFs

Associated Papers

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

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A et al.

Bmc Medical Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."