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A mutation of uS12-R67 (R69 in yeast) to lysine results in mild ribosome biogenesis defects, reduces translation fidelity in yeast and human cells, and importantly, has been identified in a ribosomophathy patient with intellectual disability, autism spectrum disorder, and hearing loss 20

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Neurons are targets of disease pathology, although selective neuronal vulnerability is shown in certain neurodegenerative circumstances [262]