Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.W297delFs
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POFUT1

NM_015352.2:p.W297delFs

Associated Papers

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."