KEGG   VARIANT: 54880v1
Entry
54880v1                      Variant                               
Name
BCOR mutation
Type
Loss of function
Gene
BCOR  BCL6 corepressor [KO:K23215]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300485
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02170  Microphthalmia, syndromic
Reference
  Authors
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G
  Title
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
  Journal
Eur J Hum Genet 17:1325-35 (2009)
DOI:10.1038/ejhg.2009.52
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