Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.V365A
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EDA

NM_001399.5:p.V365A

Associated Papers

Novel missense mutations in the tumor necrosis factor domain of Ectodysplasin-A cause non-syndromic tooth agenesis in two Chinese families.

Yang C et al.

Archives of Oral Biology, 2026

Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree.

Zhou Y et al.

Oral Diseases, 2023

Generation and characterization of function-blocking anti-ectodysplasin A (EDA) monoclonal antibodies that induce ectodermal dysplasia.

Kowalczyk-Quintas C et al.

The Journal of Biological Chemistry, 2014

Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

Nikopensius T et al.

Journal of Dental Research, 2013

Molecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodies.

Kowalczyk C et al.

The Journal of Biological Chemistry, 2011

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis.

Mues G et al.

European Journal of Human Genetics : Ejhg, 2010

A common founder mutation in the EDA-A1 gene in X-linked hypodontia.

Kurban M et al.

Dermatology (basel, Switzerland), 2010

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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."