Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.P699P
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PROS1

NM_001314077.2:p.P699P

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

SARS-CoV-2 Vaccine Improved Hemostasis of a Patient with Protein S Deficiency: A Case Report.

Mohammad MA et al.

International Journal of Molecular Sciences, 2024

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia.

Juhl D et al.

Acta Haematologica, 2021

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS29

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Thrombophilia with an onset symptom of intracranial venous thrombosis: A case report and review of the literature.

Cui L et al.

Experimental and Therapeutic Medicine, 2017

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes

Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study.

Brüwer G et al.

Blood Cells, Molecules & Diseases, 2016

Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.

Hurtado B et al.

Haematologica, 2008

Association of protein S p.Pro667Pro dimorphism with plasma protein S levels in normal individuals and patients with inherited protein S deficiency.

Castaman G et al.

Thrombosis Research, 2007

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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."