Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.L260R
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PCDH19

NM_001184880.2:p.L260R

Associated Papers

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Pham DH et al.

Human Mutation, 2021

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 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_MOESM5_ESM.pdf
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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."