Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.W41insFs
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DSG1

NM_001942.4:p.W41insFs

Associated Papers

Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.

He L et al.

Genes & Genomics, 2025

Novel mutation in the DSG1 gene causes autosomal-dominant striate palmoplantar keratoderma in a large Syrian family.

Abi Zamer B et al.

Annals of Human Genetics, 2019

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Akbar A et al.

Bmc Medical Genetics, 2019

31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.

Nomura T et al.

Journal of Dermatological Science, 2015

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene.

Barber AG et al.

Journal of Dermatological Science, 2007

Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene.

Milingou M et al.

Dermatology (basel, Switzerland), 2006

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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."