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
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.
Inoue H et al.
Pediatric Blood & Cancer, 2017
Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long-term treatment with subcutaneous protein C concentrate.
Boey JP et al.
British Journal of Haematology, 2016
In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T.
Hristov D et al.
Mutation Research, 0
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