KEGG   VARIANT: 23476v1
Entry
23476v1                      Variant                               
Name
BRD4 mutation
Type
Loss of function
Gene
BRD4  bromodomain-containing protein 4 isoform long [KO:K11722]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608749
Network
nt06512  Chromosome cohesion and segregation
Disease
H00631  Cornelia de Lange syndrome
Reference
PMID:29379197
  Authors
Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM, Bickmore WA, Pradeepa MM, FitzPatrick DR
  Title
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.
  Journal
Nat Genet 50:329-332 (2018)
DOI:10.1038/s41588-018-0042-y
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