Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N240S
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SERPINC1

NM_000488.4:p.N240S

Associated Papers

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1

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

CBS and SERPINC1 mutation-induced ischemic stroke and multisystem diseases in a young woman: a case description and literature analysis.

Jiang X et al.

Quantitative Imaging in Medicine and Surgery, 2023

Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Maruyama K et al.

Research and Practice in Thrombosis and Haemostasis, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature.

Abuduxikuer K et al.

World Journal of Gastroenterology, 2018

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.

Wang D et al.

Frontiers of Medicine, 2018

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2013

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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."