Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.L354P
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EDA

NM_001399.5:p.L354P

Associated Papers

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

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia.

Rahbaran M et al.

Cellular & Molecular Biology Letters, 2019

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

Fournier BP et al.

Journal of Dental Research, 2018

29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf

Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.

Yang Y et al.

Journal of Dental Research, 2013

Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

Liu Y et al.

Gene, 2012

[Mutation analysis of the eda-A1 gene for hypohidrotic ectodermal dysplasia and construction of recombined eukaryotic expression vector].

Lei K et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2009

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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."