Article

The minor spliceosome is a master immune regulator

2025-09-14

Abstract excerpt

Pathogenic variants in non-coding genes are emerging as critical contributors to human rare diseases. We identified 19 individuals with early-onset diabetes (diagnosed <5 years) and additional clinical features who had biallelic pathogenic variants in the novel disease gene RNU6ATAC (n=7) or in RNU4ATAC (n=12). Both genes encode non-coding components of the minor spliceosome, a protein-RNA complex mediating splici...

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Literature Corpus work: 4cd4c48e-0d9e-5334-b0b5-456613977214
DOI: 10.1101/2025.09.12.25335567

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