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Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

23 Apr 2023

Abstract excerpt

Background & Aims Non-alcoholic fatty liver disease (NAFLD) is a complex trait with an estimated prevalence of 25% globally. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, decompensation, and development of hepatocellular carcinoma in the absence of common risk factors such as obesity and type 2 diabetes. Methods Exome sequencing and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37484212
DOI: 10.1016/j.jhepr.2023.100764

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