Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.C2188Y
Back to variants list

F8

NM_000132.4:p.C2188Y

Associated Papers

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used

Detection of new mutations and molecular pathology of mild and moderate haemophilia A patients from southern Brazil.

Rosset C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation.

Djambas Khayat C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R et al.

Journal of Human Genetics, 2008

Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.

Castaman G et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

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."