Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.E2023K
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F8

NM_000132.4:p.E2023K

Associated Papers

Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.

Zuccherato LW et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females.

Morris O et al.

Genes, 2024

Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing.

Pardos-Gea J et al.

International Journal of Molecular Sciences, 2023

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

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

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

Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A.

Lannoy N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.

Bogdanova N et al.

Human Mutation, 2007

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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."