Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
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DOI: 10.1016/j.ajhg.2021.10.002
Abstract: Summary Human mitochondrial RNase P (mt-RNase P) is responsible for 5′ end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and… read more here.
Keywords: processing; rnase; trna processing; mitochondrial rnase ... See more keywords