Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.G513Splc
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F8

NM_000132.4:p.G513Splc

Associated Papers

Noninversion Variants in Sporadic Hemophilia A Originate Mostly from Females.

Chen M et al.

International Journal of Molecular Sciences, 2025

De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.

Chen M et al.

International Journal of Molecular Sciences, 2024

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Liu Y et al.

Thrombosis and Haemostasis, 2023

Preimplantation genetic diagnosis of hemophilia A.

Chen M et al.

Thrombosis Journal, 2016

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

Liang Q et al.

Thrombosis and Haemostasis, 2015

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

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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."