KEGG   VARIANT: 6514v1
Entry
6514v1                      Variant                                
Name
SLC2A2 mutation
Gene
SLC2A2  solute carrier family 2 member 2 [KO:K07593]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138160
Network
nt06017  Glycogen metabolism
Disease
H01947  Fanconi-Bickel syndrome
Reference
PMID:9354798
  Authors
Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J
  Title
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
  Journal
Nat Genet 17:324-6 (1997)
DOI:10.1038/ng1197-324
LinkDB

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