Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.P288delFs
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EDA

NM_001399.5:p.P288delFs

Associated Papers

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.

Chaudhary AK et al.

American Journal of Medical Genetics. Part A, 2022

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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."