Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach

Abstract excerpt

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...

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