Varaico: Literature-Extracted Genetic Variants

Gene:DSC3
Variant:p.L710*
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DSC3

NM_001941.5:p.L710*

Associated Papers

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.

Al Hawsawi K et al.

Frontiers in Genetics, 2022

Genetic variants associated with diseases in Afghan population.

Zadran SK et al.

Molecular Genetics & Genomic Medicine, 2021

33486863 (PubMed )
Supplement: MGG3-9-e1608-s001.xlsx › Sheet1

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.

Lee JYW et al.

The British Journal of Dermatology, 2021

No evidence of skin blisters with human desmocollin-3 gene mutation.

Payne AS

American Journal of Human Genetics, 2010

A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

Ayub M et al.

American Journal of Human Genetics, 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."