KEGG   VARIANT: 2998v1
Entry
2998v1                      Variant                                
Name
GYS2 deficiency
Gene
GYS2  glycogen synthase 2 [KO:K00693]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138571
Network
nt06017  Glycogen metabolism
Disease
H01950  Glycogen storage disease type 0a
Reference
PMID:9691087
  Authors
Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC
  Title
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
  Journal
J Clin Invest 102:507-15 (1998)
DOI:10.1172/JCI2890
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