Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
Venkatapuram VS et al.
American Journal of Medical Genetics. Part A, 2022
Sulfation of glycosaminoglycans depends on the catalytic activity of lithium-inhibited phosphatase BPNT2 in vitro.
Eisele BS et al.
The Journal of Biological Chemistry, 2021
IMPAD1 mutations in two Catel-Manzke like patients.
Nizon M et al.
American Journal of Medical Genetics. Part A, 2012
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Vissers LE et al.
American Journal of Human Genetics, 2011
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