Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1279F
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VWF

NM_000552.5:p.V1279F

Associated Papers

Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.

Anderson JR et al.

Blood, 2022

35776905 (PubMed )
Supplement: 10.1182-2022016467_bloodbld2022016467-suppl1.pdf

Type 2M and Type 2A von Willebrand Disease: Similar but Different.

Favaloro EJ et al.

Seminars in Thrombosis and Hemostasis, 2016

Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.

Corrales I et al.

Thrombosis and Haemostasis, 2009

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

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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."