Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R1985Q
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F8

NM_000132.4:p.R1985Q

Associated Papers

Analyzing 6211 unique variants in the upgraded interactive FVIII web database reveals novel insights into hemophilia A.

Print EHT et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

Cell-Based Small-Molecule Screening Identifying Proteostasis Regulators Enhancing Factor VIII Missense Mutant Secretion.

Srivastava V et al.

Biomolecules, 2025

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

Pérez-Rodríguez A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Genetic analysis of non-severe hemophilia A phenotype with A discrepancy between one-stage and chromogenic factor VIII activity assays.

Valikhani A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021

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

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.

Batlle J et al.

Thrombosis and Haemostasis, 2016

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

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity.

Trossaërt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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