Article

Evidence for strong purifying selection of human <i>47S</i> ribosomal RNA genes

2025-10-29

Abstract excerpt

<h4>ABSTRACT</h4> The multicopy 47S ribosomal RNA (rRNA) genes are among the most highly expressed genes in the human genome, yet to-date essentially no disease-causing sequence variants have been identified. This lack of disease association is surprising, as defects in 47S rRNA transcription and changes in ribosomal protein dosage, as well as nucleotide changes in the mitochondrial rRNA, all result in disease....

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Literature Corpus work: d7deec74-6940-52e3-bffb-5b6ccdff11d8
DOI: 10.1101/2025.10.28.685169

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