KEGG   VARIANT: 26227v1
Entry
26227v1                      Variant                               
Name
PHGDH deficiency
Type
Loss of function
Gene
PHGDH  phosphoglycerate dehydrogenase [KO:K00058]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606879
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H01079  3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency
H02117  Neu-Laxova syndrome
Reference
PMID:19235232
  Authors
Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW
  Title
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
  Journal
Hum Mutat 30:749-56 (2009)
DOI:10.1002/humu.20934
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