Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1657I
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VWF

NM_000552.5:p.L1657I

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

Long-ranged Protein-glycan Interactions Stabilize von Willebrand Factor A2 Domain from Mechanical Unfolding.

Dong C et al.

Scientific Reports, 2018

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Hampshire DJ et al.

Thrombosis and Haemostasis, 2013

Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments.

Interlandi G et al.

Plos One, 2012

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

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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."