Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.C561S
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GALNT3

NM_004482.4:p.C561S

Associated Papers

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

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India.

Dayal D et al.

Intractable & Rare Diseases Research, 2021

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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."