Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.N381S
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PCDH19

NM_001184880.2:p.N381S

Associated Papers

A Comprehensive Perspective on Febrile Seizures in Children: A Prospective Cohort Study with Evaluation of Clinical, Laboratory, and Genetic Features.

Yalçın G et al.

Journal of Clinical Medicine, 2025

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Akgun-Dogan O et al.

Frontiers in Genetics, 2024

38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1

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

Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy.

Yang L et al.

Brain and Behavior, 2019

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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."