Varaico: Literature-Extracted Genetic Variants

Gene:GALNT3
Variant:p.E172Splc
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GALNT3

NM_004482.4:p.E172Splc

Associated Papers

Establishment and Molecular Characterization of a Human Stem Cell Line from a Primary Cell Culture Obtained from an Ectopic Calcified Lesion of a Tumoral Calcinosis Patient Carrying a Novel GALNT3 Mutation.

Donati S et al.

Genes, 2025

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

Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.

Masi L et al.

Calcified Tissue International, 2015

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

Davila S et al.

Nature Genetics, 2004

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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."