Back to variants list
GALNT3
NM_004482.4:p.S42_K57del16
Associated Papers
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Wu A et al.
Molecular Genetics and Metabolism Reports, 2024
39185017 (PubMed )
Supplement: mmc1.xlsx › Sheet1
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
Mahjoubi F et al.
Journal of Endocrinological Investigation, 2020
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT et al.
Plos One, 2012
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
Yancovitch A et al.
Journal of Bone and Mineral Metabolism, 2011
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S et al.
American Journal of Medical Genetics. Part A, 2010
Select a paper to view details