KEGG   VARIANT: 3703v1
Entry
3703v1                      Variant                                
Name
STT3A deficiency
Type
Loss of function
Gene
STT3A  STT3 oligosaccharyltransferase complex catalytic subunit A [KO:K07151]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601134
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:23842455
  Authors
Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH
  Title
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
  Journal
Hum Mol Genet 22:4638-45 (2013)
DOI:10.1093/hmg/ddt312
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