Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R1126W
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F8

NM_000132.4:p.R1126W

Associated Papers

Molecular classification of blood and bleeding disorder genes.

Baz B et al.

Npj Genomic Medicine, 2021

34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf

Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.

Spena S et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Complexity and diversity of F8 genetic variations in the 1000 genomes.

Li JN et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein.

Pahl S et al.

Thrombosis and Haemostasis, 2014

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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."