Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R760C
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ITGB3

NM_000212.3:p.R760C

Associated Papers

Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.

Kaçar D et al.

Diagnostics (basel, Switzerland), 2025

A nonactivating ITGB3 mutation in the β3 cytoplasmic region causes macrothrombocytopenia with an impaired αIIbβ3/RhoA pathway.

Nakata K et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome.

Lee J et al.

Annals of Laboratory Medicine, 2024

Diagnosing Czech Patients with Inherited Platelet Disorders.

Louzil J et al.

International Journal of Molecular Sciences, 2022

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

Morais S et al.

Plos One, 2020

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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."