KEGG   VARIANT: 730v1
Entry
730v1                      Variant                                 
Name
C7 mutation
Gene
C7  complement C7 [KO:K03996]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 217070
Network
nt06513  Complement cascade
Disease
H00103  Late complement pathway defects
Reference
PMID:8892662
  Authors
Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE
  Title
Genetic bases of human complement C7 deficiency.
  Journal
J Immunol 157:4239-43 (1996)
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