Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.Y91N
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F5

NM_000130.5:p.Y91N

Associated Papers

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.

Tabibian S et al.

Seminars in Thrombosis and Hemostasis, 2019

Functional characterization of a novel missense mutation, His147Arg, in A1 domain of FV protein causing type II deficiency.

Liu HC et al.

Thrombosis Research, 2014

Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation.

Liu HC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.

Delev D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Modelling and expression studies of two novel mutations causing factor V deficiency.

Delev D et al.

Thrombosis and Haemostasis, 2008

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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."