Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q815*
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F8

NM_000132.4:p.Q815*

Associated Papers

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.

Testa MF et al.

Haematologica, 2023

35924581 (PubMed )
Supplement: 2022_281279_TESTA_SUPPL.pdf

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

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

Rossetti LC et al.

Haematologica, 2007

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.

Ivaskevicius V et al.

British Journal of Haematology, 2001

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