Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.T746del1
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ITGB3

NM_000212.3:p.T746del1

Associated Papers

ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes.

Wu J et al.

Journal of Cellular and Molecular Medicine, 2026

A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.

Miyashita N et al.

Annals of Hematology, 2018

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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."