Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2016P
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F8

NM_000132.4:p.R2016P

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

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg).

Ershov VI et al.

Terapevticheskii Arkhiv, 2018

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Donadon I et al.

Haematologica, 2018

The spectrum of the factor 8 (F8) defects in Taiwanese patients with haemophilia A.

Ma GC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 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."