Associated Papers
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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.
Poirier S et al.
Plos One, 2016
Protein S binding to phospholipids: evaluation of eight variants of recombinant human protein S from the PROSIT study.
Razzari C et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Biguzzi E et al.
Human Mutation, 2005
Select a paper to view details