Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.E354*
Back to variants list

EDAR

NM_022336.4:p.E354*

Associated Papers

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

Callea M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J et al.

American Journal of Medical Genetics. Part A, 2013

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

Bibi N et al.

The Australasian Journal of Dermatology, 2011

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

van der Hout AH et al.

European Journal of Human Genetics : Ejhg, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."