KEGG   VARIANT: 91869v1
Entry
91869v1                      Variant                               
Name
RFT1 mutation
Type
Loss of function
Gene
RFT1  man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 [KO:K06316]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611908
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:18313027
  Authors
Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T
  Title
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
  Journal
Am J Hum Genet 82:600-6 (2008)
DOI:10.1016/j.ajhg.2007.12.021
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