Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D596G
Back to variants list

PCDH19

NM_001184880.2:p.D596G

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 mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.

Niazi R et al.

Human Mutation, 2019

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

Cooper SR et al.

Elife, 2016

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.

Higurashi N et al.

Seizure, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."