KEGG   VARIANT: 8726v1
Entry
8726v1                      Variant                                
Name
EED mutation
Type
Loss of function
Gene
EED  embryonic ectoderm development [KO:K11462]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605984
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02477  Cohen-Gibson syndrome
Reference
PMID:27868325
  Authors
Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L
  Title
Novel EED mutation in patient with Weaver syndrome.
  Journal
Am J Med Genet A 173:541-545 (2017)
DOI:10.1002/ajmg.a.38055
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