Varaico: Literature-Extracted Genetic Variants

Gene:PCDH19
Variant:p.D558H
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PCDH19

NM_001184880.2:p.D558H

Associated Papers

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_MOESM6_ESM.pdf

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Kolc KL et al.

Advances in Experimental Medicine and Biology, 2020

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