Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.E308_V309Splc
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EDA

NM_001399.5:p.E308_V309Splc

Associated Papers

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 EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia.

Feng X et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

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."