Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q132_M133Splc
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EDA

NM_001399.5:p.Q132_M133Splc

Associated Papers

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.

Wang Y et al.

Frontiers in Genetics, 2022

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Han Y et al.

Frontiers in Genetics, 2020

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Hammersen J et al.

Prenatal Diagnosis, 2019

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

Wohlfart S et al.

Journal of Human Genetics, 2016

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

Prasad MK et al.

Journal of Medical Genetics, 2016

Hypohidrotic ectodermal dysplasia.

Wang HC et al.

Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed, 2000

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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."