Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.K266Splc
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POGLUT1

NM_152305.3:p.K266Splc

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

Galli-Galli Disease: A Comprehensive Literature Review.

Michelerio A et al.

Dermatopathology (basel, Switzerland), 2024

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

Kumar S et al.

The Journal of Investigative Dermatology, 2024

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."