Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.C286Y
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POGLUT1

NM_152305.3:p.C286Y

Associated Papers

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

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

Wilson NJ et al.

The British Journal of Dermatology, 2017

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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."