KEGG   VARIANT: 5449v1
Entry
5449v1                      Variant                                
Name
POU1F1 mutation
Gene
POU1F1  POU class 1 homeobox 1 [KO:K09363]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 173110
Network
nt06324  GHRH-GH-IGF signaling
Disease
H00254  Growth hormone deficiency
H02036  Combined pituitary hormone deficiency
Reference
  Authors
Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT
  Title
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
  Journal
J Clin Endocrinol Metab 90:4762-70 (2005)
DOI:10.1210/jc.2005-0570
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