Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.A1798V
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F8

NM_000132.4:p.A1798V

Associated Papers

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_MOESM3_ESM.xlsx › Predictions___Clinical_reports

Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.

Manderstedt E et al.

Research and Practice in Thrombosis and Haemostasis, 2020

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Manderstedt E et al.

Plos One, 2019

Origin of mutation in sporadic cases of severe haemophilia A in Sweden.

Mårtensson A et al.

Clinical Genetics, 2016

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."