KEGG   VARIANT: 5091v1
Entry
5091v1                      Variant                                
Name
PC deficiency
Type
Loss of function
Gene
PC  pyruvate carboxylase [KO:K01958]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608786
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H00073  Pyruvate carboxylase deficiency
Reference
PMID:9585612
  Authors
Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH
  Title
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.
  Journal
Am J Hum Genet 62:1312-9 (1998)
DOI:10.1086/301884
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