Congenital disorder of deglycosylation 2. Report of a novel MAN2C1 pathogenic variant and additional phenotypic implications
{{output}}
The MAN2C1 gene encodes an enzyme with alpha-mannosidase 2C1 activity, which is responsible for the degradation of defective glycoproteins in the cytoplasm. The purpose of this report is to present a novel MAN2C1 pathogenic variant in a patient with a congenit... ...
