KEGG   VARIANT: 551v1
Entry
551v1                      Variant                                 
Name
AVP mutation
Type
Loss of function
Gene
AVP  arginine vasopressin [KO:K05242]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 192340
Network
nt06325  Hormone/cytokine signaling
Disease
H00253  Neurohypophyseal diabetes insipidus
Reference
PMID:28008190
  Authors
Arima H, Azuma Y, Morishita Y, Hagiwara D
  Title
Central diabetes insipidus.
  Journal
Nagoya J Med Sci 78:349-358 (2016)
DOI:10.18999/nagjms.78.4.349
Reference
PMID:27156762
  Authors
Rutishauser J, Spiess M, Kopp P
  Title
Genetic forms of neurohypophyseal diabetes insipidus.
  Journal
Best Pract Res Clin Endocrinol Metab 30:249-62 (2016)
DOI:10.1016/j.beem.2016.02.008
Reference
PMID:21727914
  Authors
Babey M, Kopp P, Robertson GL
  Title
Familial forms of diabetes insipidus: clinical and molecular characteristics.
  Journal
Nat Rev Endocrinol 7:701-14 (2011)
DOI:10.1038/nrendo.2011.100
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