Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.L744P
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ITGB3

NM_000212.3:p.L744P

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

Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.

Sato D et al.

Pediatric Hematology and Oncology, 2024

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

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.

Pillois X et al.

Molecular Genetics & Genomic Medicine, 2018

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis.

Kobayashi Y et al.

British Journal of Haematology, 2013

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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."