KEGG   VARIANT: 3712v1
Entry
3712v1                      Variant                                
Name
IVD deficiency
Gene
IVD  isovaleryl-CoA dehydrogenase [KO:K00253]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607036
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00173  Isovaleric acidemia
Reference
PMID:2063866
  Authors
Vockley J, Parimoo B, Tanaka K
  Title
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
  Journal
Am J Hum Genet 49:147-57 (1991)
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