KEGG   VARIANT: 54538v1
Entry
54538v1                      Variant                               
Name
ROBO4 mutation
Type
Loss of function
Gene
ROBO4  roundabout guidance receptor 4 [KO:K06784]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607528
Network
nt06546  IgSF CAM signaling
Disease
H00554  Aortic valve disease
Reference
  Authors
Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wunnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Bjork HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC
  Title
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
  Journal
Nat Genet 51:42-50 (2019)
DOI:10.1038/s41588-018-0265-y
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