Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.K298N
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SERPINA1

NM_000295.5:p.K298N

Associated Papers

Spatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.

Sun S et al.

Cell Reports. Medicine, 2025

39809267 (PubMed )
Supplement: mmc2.xlsx › Figure_5

Tracing genetic diversity captures the molecular basis of misfolding disease.

Zhao P et al.

Nature Communications, 2024

Association of nitric oxide synthase gene polymorphism with asthma: A systematic review and meta-analysis.

Fan Z et al.

The Clinical Respiratory Journal, 2023

The role of caveolin-1 and endothelial nitric oxide synthase polymorphisms in susceptibility to prostate cancer.

Aliyari M et al.

International Journal of Experimental Pathology, 2021

Genetic susceptibility to cerebrovascular disease: A systematic review.

Griessenauer CJ et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2018

Lung disease modifier genes in cystic fibrosis.

Guillot L et al.

The International Journal of Biochemistry & Cell Biology, 2014

Association of eNOS gene polymorphisms T-786C and G894T with blood pressure variability in man.

Jíra M et al.

Physiological Research, 2011

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics.

Sirugo G et al.

Human Genetics, 2008

Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.

Vázquez-Mellado J et al.

Rheumatology (oxford, England), 2007

Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in alpha1-antitrypsin deficiency.

Novoradovsky A et al.

American Journal of Respiratory Cell and Molecular Biology, 1999

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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."