Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.Y315*
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POFUT1

NM_015352.2:p.Y315*

Associated Papers

Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype.

Wu Y et al.

Postepy Dermatologii I Alergologii, 2021

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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."