Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.K158*
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EDA

NM_001399.5:p.K158*

Associated Papers

Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia.

Kobielak K et al.

American Journal of Medical Genetics, 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."