Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q128fs
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EDA

NM_001399.5:p.Q128fs

Associated Papers

Novel mutation of EDA causes new asymmetrical X-linked hypohidrotic ectodermal dysplasia phenotypes in a female.

Shen L et al.

The Journal of Dermatology, 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."