Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.C186Y
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PROS1

NM_000313.4:p.C186Y

Associated Papers

Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Suchon P et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

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

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Molecular profiling of TAM tyrosine kinase receptors and ligands in endometrial carcinoma: An in silico-study.

Dilara Fatma Akin et al.

Taiwanese Journal of Obstetrics & Gynecology, 2023

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

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Duebgen S et al.

American Journal of Clinical Pathology, 2012

Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.

Alhenc-Gelas M et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

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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."