KEGG   VARIANT: 5972v1
Entry
5972v1                      Variant                                
Name
REN mutation
Gene
REN  renin [KO:K01380]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 179820
Network
nt06316  Renin-angiotensin-aldosterone signaling
Disease
H00575  Renal tubular dysgenesis
Reference
  Authors
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC
  Title
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
  Journal
Nat Genet 37:964-8 (2005)
DOI:10.1038/ng1623
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