KEGG   VARIANT: 1063v1
Entry
1063v1                      Variant                                
Name
CENPF mutation
Type
Loss of function
Gene
CENPF  centromere protein F [KO:K11499]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600236
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H01814  Stromme syndrome
Reference
  Authors
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Rosby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Stromme P
  Title
Stromme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
  Journal
Hum Mutat 37:359-63 (2016)
DOI:10.1002/humu.22960
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