Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.D749H
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ITGB3

NM_000212.3:p.D749H

Associated Papers

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

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

Morais S et al.

Plos One, 2020

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.

Ghevaert C et al.

Blood, 2008

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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."