Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.P134_V136del0
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EDARADD

NM_145861.4:p.P134_V136del0

Associated Papers

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

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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."