Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.G249S
Back to variants list

GP1BA

NM_000173.7:p.G249S

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

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

A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.

Trizuljak J et al.

Platelets, 2018

Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis.

Favaloro EJ et al.

British Journal of Haematology, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."