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ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Giorgia Di Lorenzo et al.PubMed ↗Full text ↗Publisher ↗

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