KEGG   VARIANT: 5836v1
Entry
5836v1                      Variant                                
Name
PYGL deficiency
Gene
PYGL  glycogen phosphorylase L [KO:K00688]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613741
Network
nt06017  Glycogen metabolism
Disease
H01944  Glycogen storage disease type VI
Reference
PMID:9529348
  Authors
Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW
  Title
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI.
  Journal
Am J Hum Genet 62:785-91 (1998)
DOI:10.1086/301790
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