Varaico: Literature-Extracted Genetic Variants

Gene:EDA2R
Variant:p.R47H
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EDA2R

NM_021783.5:p.R47H

Associated Papers

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Chassaing N et al.

Human Mutation, 2006

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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."