Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.S66S
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EDA

NM_001399.5:p.S66S

Associated Papers

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.

Liu X et al.

Molecular Genetics & Genomic Medicine, 2023

A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.

Li D et al.

Journal of Genetics, 2015

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia.

Kim JH et al.

International Journal of Dermatology, 2011

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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."