KEGG   VARIANT: 23512v1
Entry
23512v1                      Variant                               
Name
SUZ12 mutation
Type
Loss of function
Gene
SUZ12  SUZ12 polycomb repressive complex 2 subunit [KO:K11463]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606245
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02522  Imagawa-Matsumoto syndrome
Reference
PMID:30019515
  Authors
Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N
  Title
Novel SUZ12 mutations in Weaver-like syndrome.
  Journal
Clin Genet 94:461-466 (2018)
DOI:10.1111/cge.13415
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