KEGG   VARIANT: 6092v1
Entry
6092v1                      Variant                                
Name
ROBO2 mutation
Type
Loss of function
Gene
ROBO2  roundabout guidance receptor 2 [KO:K06754]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602431
Network
nt06546  IgSF CAM signaling
Disease
H01037  Vesicoureteral reflux
Reference
  Authors
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL
  Title
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
  Journal
Am J Hum Genet 80:616-32 (2007)
DOI:10.1086/512735
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