Varaico: Literature-Extracted Genetic Variants

Gene:CDH17
Variant:p.A364insFs
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CDH17

NM_004063.4:p.A364insFs

Associated Papers

Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.

Feng W et al.

Seizure, 2024

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.

Shibata M et al.

Journal of Human Genetics, 2021

33262389 (PubMed )
Supplement: 10038_2020_880_MOESM5_ESM.xlsx › Supplemental_Table_3

Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.

Yang L et al.

Brain and Behavior, 2019

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

van Harssel JJ et al.

Neurogenetics, 2013

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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."