Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.W1836*
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F8

NM_000132.4:p.W1836*

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

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

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Guillet B et al.

Human Mutation, 2006

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