Varaico: Literature-Extracted Genetic Variants

Gene:EDARADD
Variant:p.P121S
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EDARADD

NM_080738.5:p.P121S

Associated Papers

Novel EDARADD Variant in Ectodermal Dysplasia Unveiled by Whole-Exome Sequencing.

Kalayinia S et al.

Biochemical Genetics, 2025

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.

Kablan A et al.

Italian Journal of Pediatrics, 2024

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 missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.

Wohlfart S et al.

American Journal of Medical Genetics. Part A, 2016

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

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."