Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.K161delFs
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POFUT1

NM_015352.2:p.K161delFs

Associated Papers

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

García-Gil MF et al.

International Journal of Dermatology, 2021

Updated review of genetic reticulate pigmentary disorders.

Zhang J et al.

The British Journal of Dermatology, 2017

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."