KEGG   VARIANT: 383v1
Entry
383v1                      Variant                                 
Name
ARG1 deficiency
Gene
ARG1  arginase 1 [KO:K01476]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608313
Network
nt06010  Urea cycle
nt06535  Efferocytosis
Disease
H00186  Hyperargininemia
Drug target
Pegzilarginase: D11695
Reference
PMID:1463019
  Authors
Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I
  Title
Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia.
  Journal
Am J Hum Genet 51:1406-12 (1992)
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