Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.W1854*
Back to variants list

F8

NM_000132.4:p.W1854*

Associated Papers

Unearthing the genotype-inhibitor phenotype association in severe haemophilia A: A north Indian cohort study.

Ray D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2024

An intronic RNA element modulates Factor VIII exon-16 splicing.

Tse V et al.

Nucleic Acids Research, 2024

37962303 (PubMed )
Supplement: gkad1034_supplemental_files.zip › Supplemental_Table_1.xlsx › Sheet1

Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations.

Yang C et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

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

Factor VIII Antigen, Activity, and Mutations in Hemophilia A.

Nair PS et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2016

Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.

Delev D et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Inherited defects of coagulation factor V: the hemorrhagic side.

Asselta R et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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."