Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.R272*
Back to variants list

POGLUT1

NM_152305.3:p.R272*

Associated Papers

Beneath the surface: delineating the subtypes of Dowling-Degos disease.

Kumar S et al.

The British Journal of Dermatology, 2025

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

Tomasini D et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2025

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

Muret K et al.

International Journal of Molecular Sciences, 2024

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation.

Kono M et al.

Acta Dermato-venereologica, 2019

A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease.

Duchatelet S et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

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."