KEGG   VARIANT: 29968v1
Entry
29968v1                      Variant                               
Name
PSAT1 deficiency
Type
Loss of function
Gene
PSAT1  phosphoserine aminotransferase 1 [KO:K00831]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610936
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H01082  Phosphoserine aminotransferase deficiency
H02117  Neu-Laxova syndrome
Reference
PMID:17436247
  Authors
Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E
  Title
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
  Journal
Am J Hum Genet 80:931-7 (2007)
DOI:10.1086/517888
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