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VARIANT: 162417v1
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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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