Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D233_N234delins
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PCDH19

NM_001184880.2:p.D233_N234delins

Associated Papers

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.

Kolc KL et al.

Molecular Psychiatry, 2019

29892053 (PubMed )
Supplement: 41380_2018_66_MOESM1_ESM.xlsx › Review

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

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

Depienne C et al.

Human Mutation, 2012

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C et al.

Human Mutation, 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."