Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.L377F
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EDAR

NM_022336.4:p.L377F

Associated Papers

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

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

Lind LK et al.

Bmc Medical Genetics, 2006

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Chassaing N et al.

Human Mutation, 2006

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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."