Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.R128*
Back to variants list

DSG1

NM_001942.4:p.R128*

Associated Papers

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

He L et al.

Genes & Genomics, 2025

Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism.

Blecic AS et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021

Diagnostic next generation sequencing in neonatal erythroderma.

Cuperus E et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021

Loss-of-function mutation in DSG1 underlies focal palmoplantar keratoderma.

Nomura T et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."