KEGG   VARIANT: 5224v1
Entry
5224v1                      Variant                                
Name
PGAM2 deficiency
Type
Loss of function
Gene
PGAM2  phosphoglycerate mutase 2 [KO:K01834]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612931
Network
nt06017  Glycogen metabolism
Disease
H01951  Glycogen storage disease type X
Reference
PMID:8447317
  Authors
Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S
  Title
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
  Journal
Am J Hum Genet 52:472-7 (1993)
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