Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.C71Y
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EDAR

NM_022336.4:p.C71Y

Associated Papers

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Martínez-Romero MC et al.

Orphanet Journal of Rare Diseases, 2019

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

Chaudhary AK et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.

Salas-Alanis JC et al.

Annals of Dermatology, 2015

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD et al.

The British Journal of Dermatology, 2012

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

Bibi N et al.

The Australasian Journal of Dermatology, 2011

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia.

Moya-Quiles MR et al.

Archives of Dermatological Research, 2010

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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."