Varaico: Literature-Extracted Genetic Variants

Gene:F2
Variant:p.A294V
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F2

NM_000506.5:p.A294V

Associated Papers

Bleeding manifestations in heterozygotes with congenital FVII deficiency: a comparison with unaffected family members during a long observation period.

Girolami A et al.

Hematology (amsterdam, Netherlands), 2017

Congenital FVII deficiency and thrombotic events after replacement therapy.

Girolami A et al.

Journal of Thrombosis and Thrombolysis, 2011

Factor VII Deficiency.

Mariani G et al.

Seminars in Thrombosis and Hemostasis, 2009

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.

Mariani G et al.

Thrombosis and Haemostasis, 2005

A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates.

Toso R et al.

The Biochemical Journal, 2002

Congenital FVII deficiency and pulmonary embolism: a critical appraisal of all reported cases.

Girolami A et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

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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."