Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Y61*
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EDA

NM_001399.5:p.Y61*

Associated Papers

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.

Huang SX et al.

Genetics and Molecular Research : Gmr, 2015

Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia.

Pozo-Molina G et al.

International Journal of Dermatology, 2015

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Conte C

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Gambardella S

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Conte C

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Conte C

Human Genetics, 2008

Gene symbol: ED1. Disease: Ectodermal dysplasia.

Gambardella S

Human Genetics, 2008

[Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia].

Fan HL et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2007

Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.

Hashiguchi T et al.

Experimental Dermatology, 2003

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Schneider P et al.

The Journal of Biological Chemistry, 2001

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent MC et al.

European Journal of Human Genetics : Ejhg, 2001

A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia.

Yotsumoto S et al.

The Journal of Investigative Dermatology, 1998

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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."