Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.K158N
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EDA

NM_001399.5:p.K158N

Associated Papers

[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

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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."