Varaico: Literature-Extracted Genetic Variants

Gene:CDH17
Variant:p.A364delFs
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CDH17

NM_004063.4:p.A364delFs

Associated Papers

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

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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