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
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
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
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
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