Associated Papers
Management challenge of a rare concomitant platelet glycoprotein IV/CD36 and IIb/IIIa deficiencies: Case illustration.
Sekayan T et al.
Transfusion, 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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Ross JE et al.
Blood Advances, 2021
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT et al.
Platelets, 2018
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease.
Pontara E et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2014
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP et al.
Plos One, 2014
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
Nurden AT et al.
Blood, 2011
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
Nurden AT et al.
Platelets, 2011
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
Kannan M et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
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-File006.xls › TypeII_
Select a paper to view details