KEGG   VARIANT: 5443v1
Entry
5443v1                      Variant                                
Name
POMC mutation
Type
Loss of function
Gene
POMC  pro-opiomelanocortin preproprotein [KO:K05228]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176830
Network
nt06544  Neuroactive ligand signaling
Disease
H02106  Genetic obesity
Reference
PMID:9620771
  Authors
Krude H, Biebermann H, Luck W, Horn R, Brabant G, Gruters A
  Title
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.
  Journal
Nat Genet 19:155-7 (1998)
DOI:10.1038/509
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