Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.V205M
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CDH3

NM_001793.6:p.V205M

Associated Papers

The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report.

Al Zubi K et al.

Ophthalmic Genetics, 2022

Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.

Saeidian AH et al.

Molecular Genetics & Genomic Medicine, 2019

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

Blanco-Kelly F et al.

Bmc Medical Genetics, 2017

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

Hull S et al.

Jama Ophthalmology, 2016

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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."