Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.G255D
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EDA

NM_001399.5:p.G255D

Associated Papers

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.

Yu K et al.

Nature Communications, 2023

36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.

Pääkkönen K et al.

Human Mutation, 2001

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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."