KEGG   VARIANT: 7056v1
Entry
7056v1                      Variant                                
Name
THBD mutation
Type
Loss of function
Gene
THBD  thrombomodulin [KO:K03907]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 188040
Network
nt06514  Coagulation cascade
Disease
H00223  Inherited thrombophilia
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
Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M
  Title
Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era.
  Journal
Nephron 144:537-549 (2020)
DOI:10.1159/000508920
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