Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K2039Splc
Back to variants list

F8

NM_000132.4:p.K2039Splc

Associated Papers

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

Zhou X et al.

Frontiers in Genetics, 2025

Development of Engineered-U1 snRNA Therapies: Current Status.

Gonçalves M et al.

International Journal of Molecular Sciences, 2023

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S et al.

Archives of Iranian Medicine, 2021

Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations.

Zimmermann MA et al.

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

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."