KEGG   VARIANT: 462v1
Entry
462v1                      Variant                                 
Name
SERPINC1 mutation
Type
Loss of function
Gene
SERPINC1  serpin family C member 1 [KO:K03911]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107300
Network
nt06514  Coagulation cascade
Disease
H00223  Inherited thrombophilia
H01381  Antithrombin III deficiency
Reference
  Authors
Patnaik MM, Moll S
  Title
Inherited antithrombin deficiency: a review.
  Journal
Haemophilia 14:1229-39 (2008)
DOI:10.1111/j.1365-2516.2008.01830.x
Reference
  Authors
Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C
  Title
The genetics of venous thromboembolism: a systematic review of thrombophilia families.
  Journal
J Thromb Thrombolysis 51:359-369 (2021)
DOI:10.1007/s11239-020-02203-7
Reference
  Authors
Peng Y, Wang T, Zheng Y, Lian A, Zhang D, Xiong Z, Hu Z, Xia K, Shu C
  Title
A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report.
  Journal
Medicine (Baltimore) 98:e13999 (2019)
DOI:10.1097/MD.0000000000013999
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