Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.L54F
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PROS1

NM_000313.4:p.L54F

Associated Papers

AKR1C1 and hormone metabolism in lipedema pathogenesis: a computational biology approach.

Kaftalli J et al.

European Review for Medical and Pharmacological Sciences, 2023

Mutations in SARS-CoV-2 Leading to Antigenic Variations in Spike Protein: A Challenge in Vaccine Development.

Singh PK et al.

Journal of Laboratory Physicians, 2020

In vitro characterization of missense mutations associated with quantitative protein S deficiency.

Okada H et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Molecular bases of type II protein S deficiency: the I203-D204 deletion in the EGF4 domain alters GLA domain function.

Baroni M et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

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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."