Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.P76L
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PROS1

NM_000313.4:p.P76L

Associated Papers

Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.

Van Laer C et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

40436275 (PubMed )
Supplement: 1-s2.0-S1538783625003356-mmc2.xlsx › supp_table_S2

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

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Figure_S9A

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

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

Whole-exome sequencing in evaluation of patients with venous thromboembolism.

Lee EJ et al.

Blood Advances, 2017

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes

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."