Condition: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
rs387906959
in
COG6
gene and
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
PMID 20605848
2010 Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.