Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.L112R
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EDARADD

NM_080738.5:p.L112R

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

Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.

Fazelzadeh Haghighi N et al.

The Journal of Dermatology, 2023

Molecular basis and genetics of hypohidrotic ectodermal dysplasias.

Kovalskaia VA et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.

Asano N et al.

The Journal of Dermatology, 2021

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.

Kuramoto T et al.

Bmc Genetics, 2011

A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.

Suda N et al.

Orthodontics & Craniofacial Research, 2010

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Bal E et al.

Human Mutation, 2007

Ectodermal dysplasia--a new variant?

Bartalos M et al.

Journal De Genetique Humaine, 1968

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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."