Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.F181V
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PROC

NM_000312.4:p.F181V

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

Multisystem embolism in hereditary protein C deficiency with patent foramen ovale: a case report.

Chen L et al.

Frontiers in Cardiovascular Medicine, 2025

The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital.

Wang S et al.

Thrombosis Journal, 2024

Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.

Chen X et al.

Annals of Hematology, 2024

The clinical and genetic landscape of early-onset thrombophilia in Japan.

Egami N et al.

Pediatric Blood & Cancer, 2024

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.

Xu F et al.

Annals of Hematology, 2024

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

Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.

Li L et al.

Thrombosis Journal, 2023

37789321 (PubMed )
Supplement: 12959_2023_548_MOESM1_ESM.docx

[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].

Xu QY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

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

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

Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay.

Luan CJ et al.

Thrombosis Research, 2015

Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.

Tang L et al.

Plos One, 2012

Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group.

Zhu T et al.

Haematologica, 2011

Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.

Takagi A et al.

International Journal of Hematology, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."