KEGG   VARIANT: 1062v1
Entry
1062v1                      Variant                                
Name
CENPE mutation
Gene
CENPE  centromere protein E [KO:K11498]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 117143
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H00269  Primary microcephaly
Reference
PMID:24748105
  Authors
Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M
  Title
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
  Journal
Hum Genet 133:1023-39 (2014)
DOI:10.1007/s00439-014-1443-3
LinkDB

DBGET integrated database retrieval system