Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.R40C
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PROC

NM_000312.4:p.R40C

Associated Papers

Novel insights into inherited protein C deficiency from an interactive PROC variant database.

Zhang S et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree.

Trizuljak J et al.

Platelets, 2024

39212265 (PubMed )
Supplement: supplement_1.pdf

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

Prevalence, Genetic Background, and Clinical Phenotype of Congenital Thrombophilia in Chronic Thromboembolic Pulmonary Hypertension.

Lian TY et al.

Jacc. Asia, 2022

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

Mutation Analysis of Colorectal and Gastric Carcinomas Originating from Adenomas: Insights into Genomic Evolution Associated with Malignant Progression.

Lee SH et al.

Cancers, 2020

32023847 (PubMed )
Supplement: cancers-12-00325-s001.zip › cancers-689749-supplement_final › Table_S2.xlsx › TableS3
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