Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.R127Q
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GP1BA

NM_000173.7:p.R127Q

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

Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.

Kaya Z

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

A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD.

Bury L et al.

Blood Advances, 2022

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
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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."