Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.L194F
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GP1BA

NM_000173.7:p.L194F

Associated Papers

Platelet-Type von Willebrand Disease: Complex Pathophysiology and Insights on Novel Therapeutic and Diagnostic Strategies.

Fu A et al.

Seminars in Thrombosis and Hemostasis, 2025

Global prevalence of platelet-type von Willebrand disease.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.

Monteiro C et al.

British Journal of Haematology, 2023

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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."