Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D230N
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PCDH19

NM_001184880.2:p.D230N

Associated Papers

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.

Charzewska A et al.

International Journal of Molecular Sciences, 2023

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

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

Trump N et al.

Journal of Medical Genetics, 2016

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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."