Varaico: Literature-Extracted Genetic Variants

Gene:FGB
Variant:p.R74L
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FGB

NM_005141.5:p.R74L

Associated Papers

Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature.

Jia Y et al.

World Journal of Clinical Cases, 2022

Proteomic analysis of small extracellular vesicles from the plasma of patients with hepatocellular carcinoma.

Dong W et al.

World Journal of Surgical Oncology, 2022

36471393 (PubMed )
Supplement: 12957_2022_2849_MOESM4_ESM.xlsx › enrichment.PMID

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.

Richard M et al.

Seminars in Thrombosis and Hemostasis, 2022

The genetics of venous thromboembolism: a systematic review of thrombophilia families.

Zhang Y et al.

Journal of Thrombosis and Thrombolysis, 2021

Comparison of molecular structure and fibrin polymerization between two Bβ-chain N-terminal region fibrinogen variants, Bβp.G45C and Bβp.R74C.

Kaido T et al.

International Journal of Hematology, 2020

A novel mutation in exon 2 of FGB caused by c.221G>T † substitution, predicting the replacement of the native Arginine at position 74 with a Leucine (p.Arg74Leu † ) in a proband from a Kurdish family with dysfibrinogenaemia and familial venous and arterial thrombosis.

Shlebak AA et al.

Journal of Thrombosis and Thrombolysis, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."