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
Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.
Yeo NK et al.
Frontiers in Genetics, 2024
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
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
Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Wu SW et al.
Italian Journal of Pediatrics, 2021
34289880 (PubMed )
Supplement: 13052_2021_1112_MOESM2_ESM.xlsx › Sheet1
Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.
Ross JE et al.
Blood Advances, 2021
Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.
Guz K et al.
Polish Archives of Internal Medicine, 2017
Identification of ITGA2B and ITGB3 Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function.
Xiang Q et al.
Biomed Research International, 2016
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
Prevalence of the HPA-18w to -21w alleles in the Chinese Han population.
Liu Y et al.
International Journal of Immunogenetics, 2013
A point mutation in the EGF-4 domain of β(3) integrin is responsible for the formation of the Sec(a) platelet alloantigen and affects receptor function.
Sachs UJ et al.
Thrombosis and Haemostasis, 2012
[Study on polymorphism of membrane glycoprotein genes related to human platelet alloantigens].
Lan XF et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
New low-frequency platelet glycoprotein polymorphisms associated with neonatal alloimmune thrombocytopenia.
Peterson JA et al.
Transfusion, 2010
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