Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.G172R
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SERPINA1

NM_000295.5:p.G172R

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

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

Ferrarotti I et al.

Orphanet Journal of Rare Diseases, 2024

Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.

Park HJ et al.

Diagnostics (basel, Switzerland), 2023

Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.

Lopez-Campos JL et al.

Human Genomics, 2023

Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.

Gupta N et al.

The European Respiratory Journal, 2020

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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."