KEGG   VARIANT: 5009v1
Entry
5009v1                      Variant                                
Name
OTC deficiency
Gene
OTC  ornithine transcarbamylase [KO:K00611]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300461
Network
nt06010  Urea cycle
Disease
H00187  Ornithine transcarbamylase deficiency
Reference
PMID:17044854
  Authors
Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A
  Title
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
  Journal
Ann Hum Genet 70:797-801 (2006)
DOI:10.1111/j.1469-1809.2006.00283.x
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