Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.Y268H
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SERPINA1

NM_000295.5:p.Y268H

Associated Papers

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

Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.

Innocenti F et al.

Pharmacogenetics and Genomics, 2008

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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."