Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.R40L
Back to variants list

PROS1

NM_000313.4:p.R40L

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

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › BrM68

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

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

Alhenc-Gelas M et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."