Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.Q580*
Back to variants list

F8

NM_000132.4:p.Q580*

Associated Papers

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Holm LL et al.

Nucleic Acids Research, 2024

38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB

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

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

Sanna V 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

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."