Varaico: Literature-Extracted Genetic Variants

Gene:ITGB3
Variant:p.R240Q
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ITGB3

NM_000212.3:p.R240Q

Associated Papers

Proteomic analysis indicates lower abundance of platelet α-granule proteins in Glanzmann thrombasthenia.

Zivkovic M et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Nurden P et al.

Haematologica, 2021

Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies.

Mathews N et al.

Journal of Blood Medicine, 2021

[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].

Miao LZ et al.

Zhonghua Yi Xue Za Zhi, 2018

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.

Nurden AT et al.

Platelets, 2018

Glanzmann thrombasthenia: an update.

Franchini M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
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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."