KEGG   VARIANT: 5885v1
Entry
5885v1                      Variant                                
Name
RAD21 mutation
Gene
RAD21  RAD21 cohesin complex component [KO:K06670]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606462
Network
nt06512  Chromosome cohesion and segregation
Disease
H00631  Cornelia de Lange syndrome
Reference
  Authors
Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ
  Title
RAD21 mutations cause a human cohesinopathy.
  Journal
Am J Hum Genet 90:1014-27 (2012)
DOI:10.1016/j.ajhg.2012.04.019
LinkDB

DBGET integrated database retrieval system