Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.R170W
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EDARADD

NM_145861.4:p.R170W

Associated Papers

A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.

Rencuzogullari E et al.

Genes & Genetic Systems, 2023

A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.

Chaudhary AK et al.

American Journal of Medical Genetics. Part A, 2016

Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

Arte S et al.

Plos One, 2013

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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."