KEGG   VARIANT: 10664v1
Entry
10664v1                      Variant                               
Name
CTCF mutation
Gene
CTCF  CCCTC-binding factor [KO:K23195]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604167
Network
nt06512  Chromosome cohesion and segregation
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
PMID:23746550
  Authors
Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C
  Title
De novo mutations in the genome organizer CTCF cause intellectual disability.
  Journal
Am J Hum Genet 93:124-31 (2013)
DOI:10.1016/j.ajhg.2013.05.007
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