Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM2_ESM.xlsx › Sheet2
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
40436275 (PubMed )
Supplement: 1-s2.0-S1538783625003356-mmc2.xlsx › supp_table_S2
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 › ST3.5
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
PC Deficiency Testing: Thrombin-Thrombomodulin as PC Activator and Aptamer-Based Enzyme Capturing Increase Diagnostic Accuracy.
Reda S et al.
Frontiers in Cardiovascular Medicine, 2021
34708097 (PubMed )
Supplement: Data_Sheet_1.PDF
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
Kim HJ et al.
Haematologica, 2014
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.
Tang L et al.
Plos One, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
Rovida E et al.
Human Mutation, 2007
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