Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.T1609fs
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F8

NM_000132.4:p.T1609fs

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

Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.

Yang C et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Liu Y et al.

Thrombosis and Haemostasis, 2023

Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.

Nguyen BST et al.

Journal of Clinical Pathology, 2023

Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants.

Li F et al.

Frontiers in Genetics, 2023

Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.

Shinozawa K et al.

Thrombosis and Haemostasis, 2021

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

Spectrum and origin of mutations in sporadic cases of haemophilia A in China.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population.

Zahari M et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2018

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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."