Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.D157Splc
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PROS1

NM_000313.4:p.D157Splc

Associated Papers

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.

Niida Y et al.

Human Genome Variation, 2024

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

Alhenc-Gelas M et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

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."