Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.W274*
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EDA

NM_001399.5:p.W274*

Associated Papers

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.

Yao L et al.

Bmc Pregnancy and Childbirth, 2025

Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.

Podzus J et al.

Journal of Dental Research, 2017

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

Guazzarotti L et al.

Clinical Genetics, 2015

Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.

Dietz J et al.

European Journal of Pediatrics, 2013

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

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Pääkkönen K et al.

Human Mutation, 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."