Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.W434R
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EDAR

NM_022336.4:p.W434R

Associated Papers

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Parveen A et al.

International Journal of Molecular Sciences, 2019

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.

Sadia et al.

The Journal of Gene Medicine, 2019

A Novel Splicesite Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohydrotic (Anhidrotic) Ectodermal Dysplasia in an Iranian Family.

Torkamandi S et al.

International Journal of Molecular and Cellular Medicine, 2016

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

Bibi N et al.

The Australasian Journal of Dermatology, 2011

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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."