Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D417H
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PCDH19

NM_001184880.2:p.D417H

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

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

[A patient with an early diagnosis of PCDH19-related epilepsy].

Hoshina M et al.

No to Hattatsu = Brain and Development, 2015

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

Higurashi N 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."