Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S305_E308delFs
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EDA

NM_001399.5:p.S305_E308delFs

Associated Papers

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Han Y et al.

Frontiers in Genetics, 2020

Two cases of hypohidrotic ectodermal dysplasia caused by novel deletion mutations in the EDA gene.

Nakajima M et al.

The Journal of Dermatology, 2019

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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."