KEGG   VARIANT: 729v1
Entry
729v1                      Variant                                 
Name
C6 mutation
Gene
C6  complement C6 [KO:K03995]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 217050
Network
nt06513  Complement cascade
Disease
H00103  Late complement pathway defects
Reference
PMID:8690922
  Authors
Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE
  Title
Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
  Journal
J Immunol 156:2309-15 (1996)
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