KEGG   VARIANT: 5373v1Help
Entry
5373v1                      Variant                                

Name
PMM2 deficiency
Gene
PMM2  phosphomannomutase 2 [KO:K17497]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601785
Network
nt06015  N-Glycan precursor biosynthesis
  Element
N00671  PMM2 deficiency in N-glycan precursor biosynthesis
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