Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.C173fs
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GALNT3

NM_004482.4:p.C173fs

Associated Papers

A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.

Wu A et al.

Molecular Genetics and Metabolism Reports, 2024

Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.

Kato K et al.

Molecules (basel, Switzerland), 2021

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."