Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1306P
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VWF

NM_000552.5:p.R1306P

Associated Papers

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Gindele R et al.

Life (basel, Switzerland), 2021

Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.

Nummi V et al.

International Journal of Laboratory Hematology, 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."