Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.C639Y
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PROS1

NM_000313.4:p.C639Y

Associated Papers

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

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

Vrtel P et al.

Diagnostics (basel, Switzerland), 2022

Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.

Biguzzi E et al.

Human Mutation, 2005

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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."