Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.A1939E
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F8

NM_000132.4:p.A1939E

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_MOESM2_ESM.xlsx › Training_Set

A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.

Yi S et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2020

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

Case Report: Development of Factor VIII Inhibitor in a Patient with an Uncommon de novo Mutation in the Factor VIII Gene.

Wyatt KD et al.

Acta Haematologica, 2019

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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."