Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.Q228*
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ITGA2B

NM_000419.5:p.Q228*

Associated Papers

In vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation.

Lee CSM et al.

Research and Practice in Thrombosis and Haemostasis, 2024

Immunization against αIIb β3 and αv β3 in Glanzmann thrombasthenia patients carrying the French Gypsy mutation.

Fiore M et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Acquired Antibodies to αIIbβ3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond.

Nurden AT

Transfusion Medicine Reviews, 2018

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).

Peretz H et al.

Human Mutation, 2006

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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."