Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S872*
Back to variants list

F8

NM_000132.4:p.S872*

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

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."