Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.S69F
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SERPINA1

NM_000295.5:p.S69F

Associated Papers

Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection.

Schuler BA et al.

Plos One, 2023

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

Simultaneous phenotyping and quantification of α-1-antitrypsin by liquid chromatography-tandem mass spectrometry.

Chen Y et al.

Clinical Chemistry, 2011

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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."