Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q1336*
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F8

NM_000132.4:p.Q1336*

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

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Gouw SC et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

21070499 (PubMed )
Supplement: supplement_1.doc

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

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Bogdanova N et al.

Human Mutation, 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."