Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.I458M
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ITGA2B

NM_000419.5:p.I458M

Associated Papers

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.

Dev P et al.

Plos One, 2026

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

A novel heterozygous mutation flanking the fourth calcium-binding domain of the ITGA2B gene induces severe bleeding complications: a case report and literature review.

Xu Q et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021

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

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Kulkarni BP et al.

Plos One, 2014

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India.

Vijapurkar M et al.

Platelets, 2009

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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."