KEGG   VARIANT: 445v1
Entry
445v1                      Variant                                 
Name
ASS deficiency
Gene
ASS1  argininosuccinate synthase 1 [KO:K01940]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603470
Network
nt06010  Urea cycle
Disease
H00185  Citrullinemia
Reference
PMID:27287393
  Authors
Diez-Fernandez C, Wellauer O, Gemperle C, Rufenacht V, Fingerhut R, Haberle J
  Title
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
  Journal
J Med Genet 53:710-9 (2016)
DOI:10.1136/jmedgenet-2016-103937
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