Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.R2178L
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F8

NM_000132.4:p.R2178L

Associated Papers

F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A.

Lim MY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

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
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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."