Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.F1184_N1185delFs
Back to variants list

CNTNAP2

NM_014141.6:p.F1184_N1185delFs

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal.

Barcia G et al.

European Journal of Medical Genetics, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."