Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.E175K
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SERPINA1

NM_000295.5:p.E175K

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

Tracing genetic diversity captures the molecular basis of misfolding disease.

Zhao P et al.

Nature Communications, 2024

Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.

Wiesemann GS et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023

Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.

Gupta N et al.

The European Respiratory Journal, 2020

Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.

Wang C et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2020

Increased frequency of gastrin-releasing peptide receptor gene mutations during colon-adenocarcinoma progression.

Glover SC et al.

Molecular Carcinogenesis, 2003

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W et al.

Human Mutation, 2000

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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."