Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.Q132_M133Splc
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EDA

NM_001399.5:p.Q132_M133Splc

Associated Papers

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.

Chaudhary AK et al.

American Journal of Medical Genetics. Part A, 2022

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

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD et al.

The British Journal of Dermatology, 2012

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."