Varaico: Literature-Extracted Genetic Variants

Gene:UGGT1
Variant:p.D1454A
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UGGT1

NM_020120.4:p.D1454A

Associated Papers

Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.

Tax G et al.

Traffic (copenhagen, Denmark), 2024

Rescue of secretion of a rare-disease associated mis-folded mutant glycoprotein in UGGT1 knock-out mammalian cells.

Tax G et al.

Biorxiv : the Preprint Server for Biology, 2023

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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."