Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.D1260E
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F8

NM_000132.4:p.D1260E

Associated Papers

Genomic ancestry, F8 variants, and immune tolerance in hemophilia A patients with inhibitors: exome sequencing insights.

Sant'Anna H et al.

Haematologica, 2026

Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study.

Manderstedt E et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Race, ethnicity, F8 variants, and inhibitor risk: analysis of the "My Life Our Future" hemophilia A database.

Ahmed AE et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

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

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Genomic alterations in the F8 gene correlating with severe hemophilia A in Egyptian patients.

Mosaad RM et al.

Molecular Genetics & Genomic Medicine, 2021

Genetics and Hemostatic Potential in Persons with Mild to Moderate Hemophilia A with a Discrepancy between One-Stage and Chromogenic FVIII Assays.

Strålfors A et al.

Thrombosis and Haemostasis, 2021

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s001.pdf

Blood coagulation factor VIII D1241E polymorphism leads to a weak malectin interaction and reduction of factor VIII posttranslational modification and secretion.

Jiang N et al.

Experimental Cell Research, 2020

Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.

Al-Allaf FA et al.

Acta Biochimica Polonica, 2019

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

Owaidah T et al.

Npj Genomic Medicine, 2019

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

Identification of a novel mutation in the factor VIII gene causing severe haemophilia A.

Nissen SK et al.

Bmc Hematology, 2018

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Huffman JE et al.

Blood, 2015

First molecular analysis of F8 gene in algeria: identification of two novel mutations.

Abdi M et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014

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

Sequence variation data of F8 and F9 genes in functionally validated control individuals: implications on the molecular diagnosis of hemophilia.

Seo JY et al.

Blood Research, 2013

Incidental finding of a common polymorphism (Asp1260Glu) and a previously unreported mutation of factor VIII (Asp588Val), resulting in moderate haemophilia A.

Williams V et al.

Pathology, 2012

Genetic analysis of haemophilia A in Taiwan.

Chen YC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

Variation in 24 hemostatic genes and associations with non-fatal myocardial infarction and ischemic stroke.

Smith NL et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

Repessé Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

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