Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.S543*
Back to variants list

F8

NM_000132.4:p.S543*

Associated Papers

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 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.

Pinto P et al.

Mutation Research, 2016

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

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."