KEGG   VARIANT: 5932v1
Entry
5932v1                      Variant                                
Name
CtIP mutation
Type
Loss of function
Gene
RBBP8  RB binding protein 8, endonuclease [KO:K20773]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604124
Network
nt06506  Double-strand break repair
Disease
H00992  Seckel syndrome
Reference
PMID:21998596
  Authors
Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD
  Title
CtIP Mutations Cause Seckel and Jawad Syndromes.
  Journal
PLoS Genet 7:e1002310 (2011)
DOI:10.1371/journal.pgen.1002310
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