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Article

Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.

Liver international : official journal of the International Association for the Study of the Liver - 1 Mar 2025

Ronzoni Luisa, Pelusi Serena, Moretti Vittoria, Malvestiti Francesco, Eidgah Torghabehei Hadi, Jamialahmadi Oveis, Rondena Jessica, Bianco Cristiana, Periti Giulia, Filippo Maria Rosaria De, Romeo Stefano, Prati Daniele, Valenti Luca

Abstract excerpt

BACKGROUND AND AIMS: In patients with steatotic liver diseases (SLD), genetic factors may account for severe liver involvement despite mild or absence of triggering factors or a strong family history. Aim of this study was to examine the diagnostic uptake of targeted sequencing (TS), covering both coding and non-coding regions, of a broad panel of 82 liver and lipid metabolism genes in patients with unexplained...

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Identifiers

PMID: 39945383
DOI: 10.1111/liv.70010
PMCID: PMC11822878

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