Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.L23Q
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SERPINA1

NM_000295.5:p.L23Q

Associated Papers

Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies.

Sarrou S et al.

International Journal of Molecular Sciences, 2024

Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD.

Gupta N et al.

The European Respiratory Journal, 2020

Characterization and suppression of dysfunctional human alpha1-antitrypsin variants.

Kim MJ et al.

Biochemical and Biophysical Research Communications, 2006

Metastability in the inhibitory mechanism of human alpha1-antitrypsin.

Im H et al.

The Journal of Biological Chemistry, 1999

Folding and stability of the Z and S(iiyama) genetic variants of human alpha1-antitrypsin.

Kang HA et al.

The Journal of Biological Chemistry, 1997

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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."