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

Successful double bypass in a patient with severe hemophilia A: a case report.

Barillari G et al.

Journal of Thrombosis and Thrombolysis, 2012

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

Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations.

Bicocchi MP et al.

American Journal of Hematology, 2005

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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."