KEGG   VARIANT: 162417v1
Entry
162417v1                      Variant                              
Name
NAGS deficiency
Gene
NAGS  N-acetylglutamate synthase [KO:K11067]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608300
Network
nt06010  Urea cycle
Disease
H01032  N-acetylglutamate synthase deficiency
H01398  Primary hyperammonemia (Urea cycle disorders)
Reference
PMID:12754705
  Authors
Haberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG
  Title
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
  Journal
Hum Mutat 21:593-7 (2003)
DOI:10.1002/humu.10216
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