Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.A139V
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PROS1

NM_000313.4:p.A139V

Associated Papers

A new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.

Huang J et al.

Thrombosis Research, 2025

Molecular autopsy for sudden death in Japan.

Yamamoto T et al.

Journal of Toxicologic Pathology, 2024

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

PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis.

Miura A et al.

Legal Medicine (tokyo, Japan), 2022

Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13).

Taniguchi F et al.

Thrombosis Research, 2017

Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency.

Taniguchi F et al.

Thrombosis Research, 2015

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Miyata T et al.

Thrombosis Research, 2009

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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."