Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.S620_L621delFs
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CDH3

NM_001793.6:p.S620_L621delFs

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

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

Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).

Khan AO et al.

Ophthalmic Genetics, 2016

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

Basit S et al.

Clinical Genetics, 2011

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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."