Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1378P
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VWF

NM_000552.5:p.S1378P

Associated Papers

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.

Blenner MA et al.

The Journal of Biological Chemistry, 2014

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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."