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
Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions.
Cao Q et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
Hereditary protein C deficiency and thrombosis risk: genotype and phenotype relation in a large Italian family.
Cafolla A et al.
European Journal of Haematology, 2012
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
Rovida E et al.
Human Mutation, 2007
Select a paper to view details