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VARIANT: 3818v1
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Entry
3818v1 Variant
Name
KLKB1 mutation
Gene
KLKB1
kallikrein B1 [KO:
K01324
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
229000
Network
nt06514
Coagulation cascade
Disease
H01078
Fletcher factor deficiency
Reference
PMID:
21091145
Authors
Girolami A, Scarparo P, Candeo N, Lombardi AM
Title
Congenital prekallikrein deficiency.
Journal
Expert Rev Hematol 3:685-95 (2010)
DOI:
10.1586/ehm.10.69
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