Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.W297fs
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POFUT1

NM_015352.2:p.W297fs

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

Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo-centric lesions.

Atzmony L et al.

American Journal of Medical Genetics. Part A, 2019

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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."