Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.R451*
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PROS1

NM_000313.4:p.R451*

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

Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population.

Larsen OH et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2021

Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.

Do MD et al.

International Journal of Laboratory Hematology, 2021

Protein S Deficiency and Arterial Thromboembolism: A Case Report and Review of the Literature.

Fearon A et al.

Journal of Hematology, 2019

Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review.

Wypasek E et al.

Journal of Genetics, 2017

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

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

Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.

Hurtado B et al.

Haematologica, 2008

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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."