https://www.preprints.org/manuscript/202506.0814
Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants[v1] | Preprints.org
NGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay,...
n glycanase 1