Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.M385_V386Splc
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PROS1

NM_000313.4:p.M385_V386Splc

Associated Papers

Thrombophilia in Liver Donors: Prevalence of Protein C or S Deficiency in Korean Candidates and Decision Considerations.

Lee S et al.

Clinical Transplantation, 2025

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

French CE et al.

Hgg Advances, 2022

35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.

Vrtel P et al.

Diagnostics (basel, Switzerland), 2022

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7.

Mrożek M et al.

Medicina (kaunas, Lithuania), 2020

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.

Li L et al.

Thrombosis and Haemostasis, 2019

PROS1 IVS10+5G>A mutation causes hereditary protein S deficiency in a Chinese patient with pulmonary embolism and venous thromboembolism.

Wang X et al.

Thrombosis Research, 2019

Distinctive regional-specific PROS1 mutation spectrum in Southern China.

Chan NCN et al.

Journal of Thrombosis and Thrombolysis, 2018

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Genotype and laboratory and clinical phenotypes of protein s deficiency.

Duebgen S et al.

American Journal of Clinical Pathology, 2012

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.

Choi J et al.

Annals of Clinical and Laboratory Science, 2011

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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."