Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.R218*
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POGLUT1

NM_152305.3:p.R218*

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

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.

Kumar S et al.

The Journal of Investigative Dermatology, 2024

Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.

Papadopoulou K et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2022

Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.

Li A et al.

Human Molecular Genetics, 2019

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

Kono M et al.

Acta Dermato-venereologica, 2019

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Wilson NJ et al.

The British Journal of Dermatology, 2017

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Basmanav FB et al.

American Journal of Human Genetics, 2014

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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."