Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.N210Y
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SERPINA1

NM_000295.5:p.N210Y

Associated Papers

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes.

Ferrarotti I et al.

Pulmonology, 2025

The Importance of N186 in the Alpha-1-Antitrypsin Shutter Region Is Revealed by the Novel Bologna Deficiency Variant.

Ronzoni R et al.

International Journal of Molecular Sciences, 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."