Varaico: Literature-Extracted Genetic Variants

Gene:DSG3
Variant:p.R287*
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DSG3

NM_001944.3:p.R287*

Associated Papers

Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.

Jiang N et al.

American Journal of Medical Genetics. Part A, 2024

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

Lee JYW et al.

The British Journal of Dermatology, 2021

A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa.

Kim JH et al.

The Journal of Investigative Dermatology, 2019

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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."