Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.P364fs
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PCDH19

NM_001184880.2:p.P364fs

Associated Papers

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.

Lilles S et al.

Pediatric Reports, 2026

41563000 (PubMed )
Supplement: pediatrrep-18-00008-s001.zip › pediatrrep-3981509-supplementary.pdf

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_MOESM3_ESM.xlsx › Supplemental_Table_1

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.

Kolc KL et al.

Translational Psychiatry, 2020

32366910 (PubMed )
Supplement: 41398_2020_803_MOESM6_ESM.pdf

A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings.

Alijanpour S et al.

Basic and Clinical Neuroscience, 0

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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."