Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.W1726*
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F8

NM_000132.4:p.W1726*

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

Variable readthrough responsiveness of nonsense mutations in hemophilia A.

Martorell L et al.

Haematologica, 2020

Mutation characteristic of 103 haemophilia A patients in Vietnam: Identification of novel mutations.

Luu DV et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.

Riccardi F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010

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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."