Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.K528_P529insFs
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GALNT3

NM_004482.4:p.K528_P529insFs

Associated Papers

A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.

Wu A et al.

Molecular Genetics and Metabolism Reports, 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

A Cross-Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis.

Lee AE et al.

Jbmr Plus, 2021

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

Mahjoubi F et al.

Journal of Endocrinological Investigation, 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."