KEGG   VARIANT: 185v1
Entry
185v1                      Variant                                 
Name
AGTR1 mutation
Gene
AGTR1  angiotensin II receptor type 1 [KO:K04166]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 106165
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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