Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.R375H
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EDAR

NM_022336.4:p.R375H

Associated Papers

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation.

Bryk J et al.

Plos One, 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

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

Naeem M et al.

The British Journal of Dermatology, 2005

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

Shimomura Y et al.

The Journal of Investigative Dermatology, 2004

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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."