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
Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.
Alhenc-Gelas M et al.
Thrombosis and Haemostasis, 2020
Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.
Tang W et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.
Martos L et al.
Thrombosis and Haemostasis, 2019
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
Persistent Fetal Vasculature and Severe Protein C Deficiency.
Douglas AG et al.
Molecular Syndromology, 2010
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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