Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q1098*
Back to variants list

F8

NM_000132.4:p.Q1098*

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

Detection of F8 mutations in carriers and patients with severe hemophilia A. Identification of a novel mutation.

López-Vásquez L et al.

Investigacion Clinica, 2016

F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.

Albánez S et al.

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

Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Casaña P et al.

Haematologica, 2008

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."