Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D596V
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PCDH19

NM_001184880.2:p.D596V

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_MOESM4_ESM.xlsx › Supplemental_Table_2

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

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.

Cooper SR et al.

Elife, 2016

27787195 (PubMed )
Supplement: elife-18529-fig1-data1.xlsx › Sheet1

PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.

Higurashi N et al.

Epilepsy Research, 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."