Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.R550Q
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PCDH19

NM_001184880.2:p.R550Q

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

PCDH19 mutations in female patients from Southern Italy.

Gagliardi M et al.

Seizure, 2015

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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."