Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.R451Q
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PROS1

NM_000313.4:p.R451Q

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

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

Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13).

Taniguchi F et al.

Thrombosis Research, 2017

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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."