KEGG   VARIANT: 2992v1
Entry
2992v1                      Variant                                
Name
GYG1 deficiency
Gene
GYG1  glycogenin 1 [KO:K00750]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603942
Network
nt06017  Glycogen metabolism
Disease
H01955  Glycogen storage disease type XV
Reference
PMID:20357282
  Authors
Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A
  Title
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
  Journal
N Engl J Med 362:1203-10 (2010)
DOI:10.1056/NEJMoa0900661
LinkDB

DBGET integrated database retrieval system