Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.S162L
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POFUT1

NM_015352.2:p.S162L

Associated Papers

Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O-fucose modification on EGF12 in human development.

Matsumoto K et al.

Glycobiology, 2024

Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O -fucose modification on EGF12 in human development.

Matsumoto K et al.

Biorxiv : the Preprint Server for Biology, 2024

Effects of Notch glycosylation on health and diseases.

Urata Y et al.

Development, Growth & Differentiation, 2020

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Takeuchi H et al.

Glycobiology, 2018

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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."