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KEGG   VARIANT: 2056v1
Entry
2056v1                      Variant                                
Name
EPO mutation
Gene
EPO  erythropoietin [KO:K05437]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 133170
Network
nt06518  JAK-STAT signaling
nt06535  Efferocytosis
nt06542  HIF signaling
Disease
H00236  Congenital polycythemia
H02559  Microvascular complications of diabetes
Reference
PMID:29514032
  Authors
Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC
  Title
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
  Journal
N Engl J Med 378:924-930 (2018)
DOI:10.1056/NEJMoa1709064
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