Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.R2215H
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F5

NM_000130.5:p.R2215H

Associated Papers

Clinical utility of panel-based genetic sequencing for von Willebrand disease.

Ramanan R et al.

Research and Practice in Thrombosis and Haemostasis, 2025

40242192 (PubMed )
Supplement: mmc1.xlsx › Participant_data

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

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
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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."