Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L757fs
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VWF

NM_000552.5:p.L757fs

Associated Papers

Clinical utility of panel-based genetic sequencing for von Willebrand disease.

Ramanan R et al.

Research and Practice in Thrombosis and Haemostasis, 2025

40242192 (PubMed )
Supplement: mmc1.xlsx › Participant_data

Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program.

Christopherson PA et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

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

Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.

Daidone V et al.

Haematologica, 2020

Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.

Casonato A et al.

Plos One, 2016

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