Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.D265Splc
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EDA

NM_001399.5:p.D265Splc

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

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.

Salas-Alanis JC et al.

Annals of Dermatology, 2015

Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

Schneider H et al.

Journal of Medical Genetics, 2011

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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."