Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.G2140D
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F5

NM_000130.5:p.G2140D

Associated Papers

Profiling the mutational landscape of coagulation factor V deficiency.

Paraboschi EM et al.

Haematologica, 2020

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

"In vitro" correction of the severe factor V deficiency-related coagulopathy by a novel plasma-derived factor V concentrate.

Bulato C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

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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."