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Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency

10 Mar 2025

Abstract excerpt

Somatic variants accumulate in non-malignant tissues with age. Functional variants, leading to clonal advantage of hepatocytes, accumulate in the liver of patients with acquired chronic liver disease (CLD). Whether somatic variants are common to CLD from differing etiologies is unknown. We analyzed liver somatic variants in patients with genetic CLD from alpha-1 antitrypsin (A1AT) deficiency or hemochromatosis....

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PMID: 40065168
DOI: 10.1038/s41588-025-02125-1

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