Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.I1213fs
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F8

NM_000132.4:p.I1213fs

Associated Papers

Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants: A Descriptive Study

Jiang J et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025

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

41169533 (PubMed )
Supplement: mmc1.pdf

Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.

Chen M et al.

International Journal of Molecular Sciences, 2025

Mutational Profile in Romanian Patients with Hemophilia A.

Grigore A et al.

International Journal of Molecular Sciences, 2024

De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.

Chen M et al.

International Journal of Molecular Sciences, 2024

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

Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China.

Zhang X et al.

Global Medical Genetics, 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

Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations.

Nasirnejad Sola F et al.

Clinical Case Reports, 2020

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Atik T et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.

Luu DV et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

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

Molecular diagnosis of haemophilia A in patients from Senegal.

Seck M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017

Factor VIII gene variants and inhibitor risk in African American hemophilia A patients.

Gunasekera D et al.

Blood, 2015

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