Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.F398delFs
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EDAR

NM_022336.4:p.F398delFs

Associated Papers

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.

Thaweesapphithak S et al.

Bmc Oral Health, 2025

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

Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia.

Okita T et al.

The Journal of Dermatology, 2019

Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.

Monroy-Jaramillo N et al.

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

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

Callea M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J et al.

American Journal of Medical Genetics. Part A, 2013

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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."