Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.F2146S
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F8

NM_000132.4:p.F2146S

Associated Papers

Genotype-Dependent Response to Desmopressin in Hemophilia A and Proposal of a Predictive Response Score.

Guillet B et al.

Thrombosis and Haemostasis, 2024

Prediction of hemophilia A severity using a small-input machine-learning framework.

Lopes TJS et al.

Npj Systems Biology and Applications, 2021

34035274 (PubMed )
Supplement: 41540_2021_183_MOESM2_ESM.xlsx › Training_Set

Genetic causes of haemophilia in women and girls.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

The natural history of mild haemophilia: a 30-year single centre experience.

Tagliaferri A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

p.Tyr365Cys change in factor VIII: haemophilia A, but not as we know it.

Bowyer AE et al.

British Journal of Haematology, 2011

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.

Trossaërt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.

Riccardi F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

Haemophilia A mutations in the UK: results of screening one-third of the population.

Green PM et al.

British Journal of Haematology, 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."