Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.H450ins1
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PCDH19

NM_001184880.2:p.H450ins1

Associated Papers

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Ding J et al.

Frontiers in Neurology, 2022

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

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

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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."