Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.D399_A404del6
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EDAR

NM_022336.4:p.D399_A404del6

Associated Papers

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

A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia.

Tariq M et al.

The British Journal of Dermatology, 2007

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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."