Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.L343P
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ITGA2B

NM_000419.5:p.L343P

Associated Papers

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3.

Siddiqi MYJ et al.

Cells, 2023

Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia.

Sharma R et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

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

Kulkarni BP et al.

Plos One, 2014

Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families.

Kannan M et al.

International Journal of Laboratory Hematology, 2010

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.

Kannan M et al.

Journal of Thrombosis and Haemostasis : Jth, 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."