KEGG   VARIANT: 5805v1Help
Entry
5805v1                      Variant                                

Name
PTS deficiency
Gene
PTS  6-pyruvoyltetrahydropterin synthase [KO:K01737]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612719
Network
nt06016  Phenylalanine and tyrosine metabolism
  Element
N00703  PTS deficiency in tetrahydrobiopterin biosynthesis
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