Article

Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathy

2025-07-16

Abstract excerpt

RNA polymerase III (Pol III) is a multi-subunit enzymatic complex essential for the transcription of small noncoding RNAs with structural, translational or regulatory functions. Biallelic pathogenic variants in multiple genes encoding Pol III subunits have been linked to a spectrum of neurological disorders, mainly affecting the central nervous system. To date, pathogenic monoallelic variants have been reported in...

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Literature Corpus work: d3f521b1-259a-5277-892a-a214e887bba2
DOI: 10.1101/2025.07.16.25331559

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Monoallelic <i>POLR3A</i> variants cause a Pol III-related disorder characterized by peripheral neuropathyDOI 10.1101/2025.07.16.25331559Read

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