KEGG   VARIANT: 2146v2
Entry
2146v2                      Variant                                
Name
EZH2 mutation
Type
Loss of function
Gene
EZH2  enhancer of zeste 2 polycomb repressive complex 2 subunit [KO:K11430]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601573
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H01751  Weaver syndrome
Reference
PMID:22177091
  Authors
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, Chitayat D, Boycott KM, Weaver DD, Jones SJ
  Title
Mutations in EZH2 cause Weaver syndrome.
  Journal
Am J Hum Genet 90:110-8 (2012)
DOI:10.1016/j.ajhg.2011.11.018
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