Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.L397H
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EDAR

NM_022336.4:p.L397H

Associated Papers

A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2021

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

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.

Chaudhary AK et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

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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."