Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.F379S
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EDA

NM_001399.5:p.F379S

Associated Papers

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

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

Yu K et al.

Oral Diseases, 2024

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.

Yu K et al.

Nature Communications, 2023

36765055 (PubMed )
Supplement: 41467_2023_36367_MOESM1_ESM.pdf

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

Yu K et al.

Clinical Genetics, 2022

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.

Yu K et al.

Molecular Genetics & Genomic Medicine, 2021

[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."