Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.G373R
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SERPINA1

NM_000295.5:p.G373R

Associated Papers

Susceptibility of alpha-1 antitrypsin deficiency variants to polymer-blocking therapy.

Ronzoni R et al.

Jci Insight, 2025

40627447 (PubMed )
Supplement: jciinsight-10-194354-s141.xlsx › Fig_3_Top

Probing of the reactive center loop region of alpha-1-antitrypsin by mutagenesis predicts new type-2 dysfunctional variants.

Denardo A et al.

Cellular and Molecular Life Sciences : Cmls, 2023

Characterisation of a type II functionally-deficient variant of alpha-1-antitrypsin discovered in the general population.

Laffranchi M et al.

Plos One, 2019

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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."