Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.K161fs
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POFUT1

NM_015352.2:p.K161fs

Associated Papers

Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease.

Chen Y et al.

The Journal of Dermatology, 2021

A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa.

García-Gil MF et al.

International Journal of Dermatology, 2021

Effects of Notch glycosylation on health and diseases.

Urata Y et al.

Development, Growth & Differentiation, 2020

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.

Zhong W et al.

Clinical and Experimental Dermatology, 2018

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

Li M et al.

American Journal of Human Genetics, 2013

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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."