Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L300P
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SERPINA1

NM_000295.5:p.L300P

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

Molecular characterization of PI * S hangzhou , a SERPINA1 allele from continental China encoding a defective alpha-1-antitrypsin.

Hernández-Pérez JM et al.

Frontiers in Pediatrics, 2022

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency.

Foil KE

Therapeutic Advances in Chronic Disease, 2021

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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."