Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.A58D
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SERPINA1

NM_000295.5:p.A58D

Associated Papers

Novel SERPINA1 Alleles Identified through a Large Alpha-1 Antitrypsin Deficiency Screening Program and Review of Known Variants.

Wiesemann GS et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2023

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.

Matamala N et al.

American Journal of Respiratory Cell and Molecular Biology, 2018

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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."