Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R289L
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EDA

NM_001399.5:p.R289L

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

A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.

Zhang H et al.

Molecular Genetics & Genomic Medicine, 2021

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

Andreoni F et al.

Molecular Genetics & Genomic Medicine, 2021

Novel missense mutation in the EDA gene in a family affected by oligodontia.

Ruiz-Heiland G et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2016

Oligodontia and curly hair occur with ectodysplasin-a mutations.

Lee KE et al.

Journal of Dental Research, 2014

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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."