Associated Papers
Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.
Zhang Y et al.
Platelets, 2026
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_cSrc
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc
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
ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.
Nurden AT et al.
Platelets, 2018
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Nurden AT et al.
Human Mutation, 2015
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP et al.
Plos One, 2014
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
Nurden AT et al.
Platelets, 2011
Glanzmann thrombasthenia: an update.
Franchini M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
Kannan M et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Glanzmann's thrombasthenia: an overview.
Kannan M et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0
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