KEGG   VARIANT: 55869v1
Entry
55869v1                      Variant                               
Name
HDAC8 mutation
Gene
HDAC8  histone deacetylase 8 [KO:K11405]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300269
Network
nt06512  Chromosome cohesion and segregation
Disease
H00631  Cornelia de Lange syndrome
Reference
  Authors
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K
  Title
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
  Journal
Nature 489:313-7 (2012)
DOI:10.1038/nature11316
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