KEGG   VARIANT: 5096v1
Entry
5096v1                      Variant                                
Name
PCCB deficiency
Gene
PCCB  propionyl-CoA carboxylase subunit beta [KO:K01966]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 232050
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00175  Propionic acidemia
Reference
PMID:17051315
  Authors
Desviat LR, Clavero S, Perez-Cerda C, Navarrete R, Ugarte M, Perez B
  Title
New splicing mutations in propionic acidemia.
  Journal
J Hum Genet 51:992-7 (2006)
DOI:10.1007/s10038-006-0068-3
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