Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.R261Q
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GALNT3

NM_004482.4:p.R261Q

Associated Papers

A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.

Wu A et al.

Molecular Genetics and Metabolism Reports, 2024

Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report.

Fabbriciani G et al.

Reumatismo, 2024

Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.

Hassan N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

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

Garay YC et al.

Journal of Molecular Medicine (berlin, Germany), 2022

Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.

Mahjoubi F et al.

Journal of Endocrinological Investigation, 2020

[A CASE OF FAMILIAL CALCINOSIS].

GIRARDI G et al.

Reumatismo, 0

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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."