Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.D365N
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SERPINA1

NM_000295.5:p.D365N

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

Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.

Ferrarotti I et al.

Orphanet Journal of Rare Diseases, 2024

The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.

Ortega VE et al.

American Journal of Respiratory and Critical Care Medicine, 2020

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.

Graham RP et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Antioxidant defense enzyme genes and asthma susceptibility: gender-specific effects and heterogeneity in gene-gene interactions between pathogenetic variants of the disease.

Polonikov AV et al.

Biomed Research International, 2014

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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."