Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach
Year: 2024
Type: article
Study design: Observational Study
Abstract: Background & Aim: represents a good candidate for this approach due to its known association with steatotic liver disease (SLD). Methods: and evaluated their association with liver phenotypes and clinical outcomes. Results: <0.05), primarily driven by a novel rare stop-gain variant (W35X) with the same directionality. Conclusion: function and SLD and provides the basis for future mechanistic studies. Impact and implications: variants in metabolic dysfunction-associated steatotic liver disease.
Source: JHEP Reports
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,900
Funders: Land Nordrhein-Westfalen, Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, RWTH Aachen University, Interdisziplinäres Zentrum für Klinische Forschung, Universitätsklinikum Würzburg, Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen, National Institutes of Health, Perelman School of Medicine, University of Pennsylvania, Courant Forschungszentrum Geobiologie, Georg-August-Universität Göttingen, Center for Information Technology, National Center for Advancing Translational Sciences
OpenAlex ID: W4403317089