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Zaganas Neurology and Neurogenetics Laboratory, School of Medicine, University of Crete, Heraklion, Crete, Greece Background and Aims: Next Generation Sequencing (NGS), particularly Whole Exome Sequencing (WES), has revolutionized rare disease diagnostics by enabling earlier and more precise molecular diagnoses

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K-ras(G12V) transformation leads to mitochondrial dysfunction and a metabolic switch from oxidative phosphorylation to glycolysis