Varaico: Literature-Extracted Genetic Variants

Gene:DSG1
Variant:p.R857*
Back to variants list

DSG1

NM_001942.4:p.R857*

Associated Papers

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

He L et al.

Genes & Genomics, 2025

A case report of severe dermatitis, allergies, and metabolic wasting (SAM syndrome).

Rodríguez Tejero A et al.

Pediatric Dermatology, 2020

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Rudilla F et al.

Frontiers in Immunology, 2019

SAM syndrome is characterized by extensive phenotypic heterogeneity.

Taiber S et al.

Experimental Dermatology, 2018

SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.

Balan BK et al.

Pediatric Dermatology, 0

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."