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
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
Guéguen P et al.
Transfusion, 2020
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
Buitrago L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.
Randi AM et al.
The Journal of Biological Chemistry, 1992
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