Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.D294N
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SERPINA1

NM_000295.5:p.D294N

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

Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1 Antitrypsin Deficiency.

Ottaviani S et al.

American Journal of Respiratory Cell and Molecular Biology, 2023

Identification of key amino acid residues in Neisseria polysaccharea amylosucrase.

Sarçabal P et al.

Febs Letters, 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."