Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.L53insFs
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PCDH19

NM_001184880.2:p.L53insFs

Associated Papers

PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency.

Chen Y 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

PCDH19-Related Epilepsy in Early Onset of Chinese Male Patient: Case Report and Literature Review.

Yang X et al.

Frontiers in Neurology, 2020

Mosaicism and incomplete penetrance of PCDH19 mutations.

Liu A et al.

Journal of Medical Genetics, 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."