Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K1987insFs
Back to variants list

F8

NM_000132.4:p.K1987insFs

Associated Papers

Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.

Zuccherato LW et al.

Research and Practice in Thrombosis and Haemostasis, 2025

41169533 (PubMed )
Supplement: mmc1.pdf

Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland.

Janczar S et al.

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

Factor VIII gene variants and inhibitor risk in African American hemophilia A patients.

Gunasekera D et al.

Blood, 2015

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
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."