KEGG   VARIANT: 8547v1
Entry
8547v1                      Variant                                
Name
FCN3 mutation
Gene
FCN3  ficolin 3 [KO:K10104]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604973
Network
nt06513  Complement cascade
Disease
H00105  Mannose-binding lectin pathway component defects
Reference
PMID:19535802
  Authors
Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P
  Title
Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.
  Journal
N Engl J Med 360:2637-44 (2009)
DOI:10.1056/NEJMoa0900381
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