VARIANT: 6514v1
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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
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