Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S1463_L1464delFs
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F8

NM_000132.4:p.S1463_L1464delFs

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

Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022

Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.

Janczar S et al.

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

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Guo Z et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Haemophilia A mutations in the UK: results of screening one-third of the population.

Green PM et al.

British Journal of Haematology, 2008

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.

Rossetti LC et al.

Haematologica, 2007

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