Associated Papers
Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency.
Matamala N et al.
Respiratory Research, 2026
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40672482 (PubMed )
Supplement: media-1.pdf
Exome-based genotype-first reverse phenotyping using structured electronic health record data identifies novel SERPINA1 variants associated with liver markers and demonstrates a dominant effect for specific variants on liver phenotype.
Silva Rodriguez M et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2025
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
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.
Giacopuzzi E et al.
Human Mutation, 2018
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