KEGG   VARIANT: 2997v1
Entry
2997v1                      Variant                                
Name
GYS1 deficiency
Gene
GYS1  glycogen synthase 1 [KO:K00693]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138570
Network
nt06017  Glycogen metabolism
Disease
H01949  Glycogen storage disease type 0b
Reference
PMID:17928598
  Authors
Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E
  Title
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.
  Journal
N Engl J Med 357:1507-14 (2007)
DOI:10.1056/NEJMoa066691
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