Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.T269fs
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GALNT3

NM_004482.4:p.T269fs

Associated Papers

Polypeptide N-acetylgalactosamine transferase 3: a post-translational writer on human health.

Garay YC et al.

Journal of Molecular Medicine (berlin, Germany), 2022

Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.

Kato K et al.

Molecules (basel, Switzerland), 2021

Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3.

de Las Rivas M et al.

Nature Chemical Biology, 2020

Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.

Rafaelsen S et al.

Bmc Genetics, 2014

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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."