Varaico: Literature-Extracted Genetic Variants

Gene:EDAR
Variant:p.Q417*
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EDAR

NM_022336.4:p.Q417*

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

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.

Ahmad F et al.

Congenital Anomalies, 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."