KEGG   VARIANT: 1650v1
Entry
1650v1                      Variant                                
Name
DDOST deficiency
Type
Loss of function
Gene
DDOST  dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [KO:K12670]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602202
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:22305527
  Authors
Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR
  Title
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
  Journal
Am J Hum Genet 90:363-8 (2012)
DOI:10.1016/j.ajhg.2011.12.024
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