Article

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

2024-10-08

Abstract excerpt

Variants in RNU4-2 , encoding the small nuclear RNA (snRNA) U4, were recently identified as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we investigated de novo variants in 50 snRNAs in a French cohort of 23,649 individuals with rare disorders and collected data of additional patients through an international collaboration. Altogether, we identified 133 probands with pathogenic or likely...

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Literature Corpus work: 4000fa89-8c02-5df2-89ac-ad5cc2b49245
DOI: 10.1101/2024.10.07.24314689

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