Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q358R
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EDA

NM_001399.5:p.Q358R

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

Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.

Yu K et al.

Oral Diseases, 2024

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Yu K et al.

Clinical Genetics, 2022

[Mutation screening and functional analysis for 8 patients with ectodermal dysplasia].

Zhao K et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2019

[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].

Zou C et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2015

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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."