Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.I312M
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EDA

NM_001399.5:p.I312M

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

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

Wu Y et al.

Human Genetics, 2024

EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.

Su L et al.

International Journal of Molecular Sciences, 2024

[EDA mutation screening and phenotype analysis in patients with tooth agenesis].

He HY et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2016

Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.

He H et al.

Plos One, 2013

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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."