KEGG   VARIANT: 2538v1
Entry
2538v1                      Variant                                
Name
G6PC deficiency
Gene
G6PC1  glucose-6-phosphatase catalytic subunit 1 [KO:K01084]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613742
Network
nt06017  Glycogen metabolism
Disease
H01939  Glycogen storage disease type I
Reference
PMID:10748407
  Authors
Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K
  Title
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
  Journal
Am J Med Genet 91:107-12 (2000)
DOI:10.1002/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y
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