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<i>LMNA</i>R644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulation<i>in vitro</i>

2023-12-22

Abstract excerpt

<h4>Summary</h4> The R644C variant of lamin A is controversial, as it has been linked to multiple phenotypes in familial studies, but has also been identified in apparently healthy volunteers. Here we present data from a large midwestern US cohort showing that this variant associates genetically with hepatic steatosis, and with related traits in additional publicly available datasets, while in vitro testing demons...

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Literature Corpus work
5d5feb8d-0a87-5a36-bce9-073bf48b2659
DOI
10.1101/2023.12.20.23300290
Open publication

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<i>LMNA</i>R644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulation<i>in vitro</i>DOI 10.1101/2023.12.20.23300290
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