Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.R515C
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PROS1

NM_000313.4:p.R515C

Associated Papers

Comprehensive review of thrombophilia: pathophysiology, prevalence, risk factors, and molecular diagnosis.

Altwayan R et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2025

The impact of PROS1 mutation position on thrombotic risk in protein S-deficient patients.

Fenclova T et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Rapid identification of a pathogenic variant of PROS1 in a thrombophilic family by whole exome sequencing: A case report.

Zhang W et al.

Medicine, 2021

Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study.

Brüwer G et al.

Blood Cells, Molecules & Diseases, 2016

Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism.

Ichiyama M et al.

Pediatric Research, 2016

Molecular basis of protein S deficiency in China.

Tang L et al.

American Journal of Hematology, 2013

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Duebgen S et al.

American Journal of Clinical Pathology, 2012

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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."