Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q611*
Back to variants list

F8

NM_000132.4:p.Q611*

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

Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.

Liu Z et al.

Haematologica, 2019

Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors.

Coppola A et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.

Salviato R et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

Immune tolerance induction with recombinant factor VIII in hemophilia A patients with high responding inhibitors.

Rocino A et al.

Haematologica, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."