VARIANT: 730v1
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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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