KEGG   VARIANT: 2161v1
Entry
2161v1                      Variant                                
Name
F12 mutation
Type
Loss of function
Gene
F12  coagulation factor XII [KO:K01328]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610619
Network
nt06514  Coagulation cascade
Disease
H00941  Factor XII deficiency
H01006  Hereditary angioedema
Reference
PMID:30656274
  Authors
Levi M, Cohn DM, Zeerleder S
  Title
Hereditary angioedema: Linking complement regulation to the coagulation system.
  Journal
Res Pract Thromb Haemost 3:38-43 (2019)
DOI:10.1002/rth2.12175
Reference
PMID:35675023
  Authors
Chou SC, Lin CY, Lin HY, Pai CH, Yu CY, Kuo SF, Lin JS, Lin PT, Hung MH, Hsieh HN, Liu HC, Shen MC
  Title
Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.
  Journal
Int J Hematol 10.1007/s12185-022-03390-0 (2022)
DOI:10.1007/s12185-022-03390-0
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