KEGG   VARIANT: 25836v1
Entry
25836v1                      Variant                               
Name
NIPBL mutation
Gene
NIPBL  NIPBL cohesin loading factor [KO:K06672]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608667
Network
nt06512  Chromosome cohesion and segregation
Disease
H00631  Cornelia de Lange syndrome
Reference
  Authors
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG
  Title
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
  Journal
Nat Genet 36:631-5 (2004)
DOI:10.1038/ng1364
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