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Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver Disease

6 Aug 2025

Abstract excerpt

BACKGROUND & AIMS: Cholestatic liver diseases are a heterogeneous group of conditions that can remain unexplained despite a comprehensive diagnostic assessment. Genetic disorders may underlie many of these unexplained adult-onset cholestasis cases. However, genetic testing in adults has been focused on genes linked to progressive familial intrahepatic cholestasis (PFIC). This study evaluated the diagnostic...

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PMID: 40769470
DOI: 10.1016/j.cgh.2025.07.031

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