Varaico: Literature-Extracted Genetic Variants

Gene:DSG4
Variant:p.R289*
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DSG4

NM_177986.5:p.R289*

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Single-cell analysis based dissection of clonality in myelofibrosis.

Mylonas E et al.

Nature Communications, 2020

31911629 (PubMed )
Supplement: 41467_2019_13892_MOESM4_ESM.xlsx › MPN10

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 2015

A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.

Ullah A et al.

Clinical and Experimental Dermatology, 2015

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.

Zlotogorski A et al.

The Journal of Investigative Dermatology, 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."