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Xie Z, Sun Y, Ye Y, Hu D, Zhang H, He Z, et al

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Cachectic liver also shows mitochondrial alterations in mouse models (Rosa-Caldwell et al., 2020), which precede a fibrotic phenotype during the progression of cancer-cachexia also observed in patients (Pinter et al., 2016

Due to the extremely low C0 levels of this study subject in the second screening, NGS was performed, and two novel SLC22A5 pathogenic variants were identified