Article

Analysis of spliceosome-related coding and noncoding genes and pseudogenes reveals novel candidates

2026-08-10

Abstract excerpt

Splicing is a complex molecular mechanism in eukaryotic cells essential to gene expression and regulation, involving more than 300 protein-coding genes (PCGs) and 43 small nuclear RNA (snRNA) genes. However, fewer than 30 gene-disease relationships have been described as spliceosomopathies to date. This discrepancy suggests the splicing machinery as an underexplored area for human disease gene discovery. For snRNA...

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Literature Corpus work: 446e04aa-da2b-5c4a-a8d5-2ec316e5709c
DOI: 10.64898/2026.08.06.26358951

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