Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.I220N
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GALNT3

NM_004482.4:p.I220N

Associated Papers

A novel homozygous variant in exon 4 of the GALNT3 gene causing hyperphosphataemic familial tumoural calcinosis in a family from China.

Zhang Y et al.

Endokrynologia Polska, 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

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

Mahjoubi F et al.

Journal of Endocrinological Investigation, 2020

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

de Las Rivas M et al.

Nature Chemical Biology, 2020

Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.

Sun L et al.

Bone Research, 2016

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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."