Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.H998Q
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F8

NM_000132.4:p.H998Q

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 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

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

Jourdy Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

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

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Guillet B et al.

Human Mutation, 2006

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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."