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
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
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
[A survey of 20 inherited protein C deficiencies in the patients with venous thromboembolism].
Shen W et al.
Zhonghua Yi Xue Za Zhi, 2012
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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