Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q132*
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EDA

NM_001399.5:p.Q132*

Associated Papers

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Kovalskaia VA et al.

Orphanet Journal of Rare Diseases, 2026

41645317 (PubMed )
Supplement: 13023_2026_4211_MOESM1_ESM.xlsx › ____1

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

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 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

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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."