Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.M251V
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POFUT1

NM_015352.2:p.M251V

Associated Papers

Novel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence.

Kiuru M et al.

Jaad Case Reports, 2020

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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."