Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.D417Y
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CNTNAP2

NM_014141.6:p.D417Y

Associated Papers

Novel and known minor alleles of CNTNAP2 gene variants are associated with comorbidity of intellectual disability and epilepsy phenotypes: a case-control association study reveals potential biomarkers.

Ul Mudassir B et al.

Molecular Biology Reports, 2024

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC et al.

Human Mutation, 2019

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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."