Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Y473C
Back to variants list

F8

NM_000132.4:p.Y473C

Associated Papers

Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Nair PS et al.

Plos One, 2014

Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function.

Markoff A et al.

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

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Bogdanova N et al.

Human Mutation, 2005

Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism.

Morichika S et al.

British Journal of Haematology, 1997

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."