Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.N123K
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PCDH19

NM_001184880.2:p.N123K

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

Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.

Feng W et al.

Seizure, 2024

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Chuan Z et al.

Frontiers in Genetics, 2022

35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1

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
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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."