KEGG   VARIANT: 554v1
Entry
554v1                      Variant                                 
Name
AVPR2 mutation
Gene
AVPR2  arginine vasopressin receptor 2 [KO:K04228]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300538
Disease
H01294  Nephrogenic syndrome of inappropriate antidiuresis
Reference
  Authors
Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE
  Title
Nephrogenic syndrome of inappropriate antidiuresis.
  Journal
N Engl J Med 352:1884-90 (2005)
DOI:10.1056/NEJMoa042743
Reference
  Authors
Bardanzellu F, Pintus MC, Masile V, Fanos V, Marcialis MA
  Title
Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later.
  Journal
Pediatr Nephrol 34:763-775 (2019)
DOI:10.1007/s00467-018-3922-6
Reference
  Authors
Erdelyi LS, Mann WA, Morris-Rosendahl DJ, Gross U, Nagel M, Varnai P, Balla A, Hunyady L
  Title
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
  Journal
Kidney Int 88:1070-8 (2015)
DOI:10.1038/ki.2015.181
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