Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.N789T
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F5

NM_000130.5:p.N789T

Associated Papers

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.

Chang YS et al.

Frontiers in Medicine, 2022

Inherited defects of coagulation Factor V: the thrombotic side.

Vos HL

Journal of Thrombosis and Haemostasis : Jth, 2006

Association analysis of nine missense polymorphisms in the coagulation factor V gene with severe preeclampsia in pregnant Japanese women.

Watanabe H et al.

Journal of Human Genetics, 2002

Investigation of genotype-dependent differences in factor V activity as well as response to activated protein C by application of different methods.

Siegert G et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2001

Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.

van Wijk R et al.

Blood, 2001

Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Tang Z et al.

Journal of Thrombosis and Thrombolysis, 2001

Method-dependent influence of certain polymorphisms in the factor V B-domain on the response to activated protein C.

Siegert G et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2000

New missense mutation in exon 13 (N789T) of the coagulation factor V gene.

Kostka H et al.

Human Mutation, 1999

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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."