Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R795*
Back to variants list

F8

NM_000132.4:p.R795*

Associated Papers

Anti-FVIII antibodies in Black and White hemophilia A subjects: do F8 haplotypes play a role?

Pratt KP et al.

Blood Advances, 2023

36459498 (PubMed )
Supplement: BLOODA_ADV-2021-004909-mmc2.xlsx › SHA_BLACK_H1H2_NOINHHIS

Identification of candidate nonsense mutations of FVIII for ribosomal readthrough therapy.

Liu Z et al.

Haematologica, 2019

Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Guo Z et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018

Expression studies of mutant factor VIII alleles with premature termination codons with regard to inhibitor formation.

Zimmermann MA et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Mutation analysis of factor VIII in Korean patients with severe hemophilia A.

You CW et al.

International Journal of Hematology, 2010

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development.

Repessé Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population.

Boekhorst J et al.

British Journal of Haematology, 2005

Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A.

Acquila M et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004

Somatic mosaicism in hemophilia A: a fairly common event.

Leuer M et al.

American Journal of Human Genetics, 2001

Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.

Ivaskevicius V et al.

British Journal of Haematology, 2001

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."