KEGG   VARIANT: 435v1
Entry
435v1                      Variant                                 
Name
ASL deficiency
Gene
ASL  argininosuccinate lyase [KO:K01755]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608310
Network
nt06010  Urea cycle
Disease
H01028  Argininosuccinic aciduria
Reference
PMID:2263616
  Authors
Walker DC, McCloskey DA, Simard LR, McInnes RR
  Title
Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region.
  Journal
Proc Natl Acad Sci U S A 87:9625-9 (1990)
DOI:10.1073/pnas.87.24.9625
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