KEGG   VARIANT: 4942v1
Entry
4942v1                      Variant                                
Name
OAT deficiency
Type
Loss of function
Gene
OAT  ornithine aminotransferase [KO:K00819]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613349
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00189  Ornithinaemia
Reference
PMID:24429551
  Authors
Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H
  Title
OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
  Journal
Doc Ophthalmol 128:137-48 (2014)
DOI:10.1007/s10633-014-9426-1
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