Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N982fs
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F8

NM_000132.4:p.N982fs

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

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

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

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

Li F et al.

Frontiers in Genetics, 2023

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

Nasirnejad Sola F et al.

Clinical Case Reports, 2020

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

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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."