KEGG   VARIANT: 2542v1
Entry
2542v1                      Variant                                
Name
SLC37A4 mutation
Gene
SLC37A4  solute carrier family 37 member 4 [KO:K08171]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602671
Network
nt06017  Glycogen metabolism
Disease
H01939  Glycogen storage disease type I
Reference
PMID:212064
  Authors
Narisawa K, Igarashi Y, Otomo H, Tada K
  Title
A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system.
  Journal
Biochem Biophys Res Commun 83:1360-4 (1978)
DOI:10.1016/0006-291x(78)91371-2
Reference
PMID:9758626
  Authors
Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E
  Title
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
  Journal
Am J Hum Genet 63:976-83 (1998)
DOI:10.1086/302068
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