Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.T378T
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EDA

NM_001399.5:p.T378T

Associated Papers

X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families.

Visinoni AF et al.

American Journal of Medical Genetics. Part A, 2003

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.

Bayés M et al.

Human Molecular Genetics, 1998

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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."