Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Q895H
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VWF

NM_000552.5:p.Q895H

Associated Papers

Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

Pérez-Rodríguez A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Borràs N et al.

Haematologica, 2017

Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA.

Cabrera N et al.

Annals of Hematology, 2009

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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."