Varaico: Literature-Extracted Genetic Variants

Gene:CDH3
Variant:p.N322I
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CDH3

NM_001793.6:p.N322I

Associated Papers

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

Hull S et al.

Jama Ophthalmology, 2016

Do cell junction protein mutations cause an airway phenotype in mice or humans?

Chang EH et al.

American Journal of Respiratory Cell and Molecular Biology, 2011

CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.

Basel-Vanagaite L et al.

Molecular Syndromology, 2010

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.

Shimomura Y et al.

Development (cambridge, England), 2008

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.

Indelman M et al.

Clinical and Experimental Dermatology, 2007

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

Kjaer KW et al.

Journal of Medical Genetics, 2005

[Individualization of X-flavimaculated macular dystrophy in hereditary macular dystrophies].

François P et al.

Ophtalmologie : Organe De La Societe Francaise D'ophtalmologie, 0

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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."