Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K2039Splc
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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

Characterisation and quantification of F8 transcripts of ten putative splice site mutations.

Liang Q et al.

Thrombosis and Haemostasis, 2015

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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."