Condition: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
rs886037858
in
NUS1
gene and
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa
PMID 25066056
2014 Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.