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
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
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
A new discrepancy of HPA-3 genotyping because of a rare HPA-27bw polymorphism.
Bertrand G et al.
Transfusion Medicine (oxford, England), 2017
Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.
Guz K et al.
Polish Archives of Internal Medicine, 2017
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
The αIIb p.Leu841Met (Cab3(a+) ) polymorphism results in a new human platelet alloantigen involved in neonatal alloimmune thrombocytopenia.
Jallu V et al.
Transfusion, 2013
Human platelet antigen allele frequencies in different Algerian populations.
Brouk H et al.
Tissue Antigens, 2010
New mutations on platelet GPIIb in Sub-Saharan African populations revealed by genotyping discrepancies.
Hallé L et al.
Transfusion, 2008
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