KEGG   VARIANT: 4247v1
Entry
4247v1                      Variant                                
Name
MGAT2 deficiency
Type
Loss of function
Gene
MGAT2  alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [KO:K00736]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602616
Network
nt06015  N-Glycan biosynthesis
Disease
H00119  Congenital disorders of glycosylation type II
Reference
PMID:11228641
  Authors
Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N
  Title
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.
  Journal
J Med Genet 37:875-7 (2000)
DOI:10.1136/jmg.37.11.875
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