Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.N166H
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PROS1

NM_000313.4:p.N166H

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

Integrative dynamic structural biology unveils conformers essential for the oligomerization of a large GTPase.

Peulen TO et al.

Elife, 2023

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

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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."