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Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

2025-08-16

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<h4>ABSTRACT</h4> Genetic variants in RNU4-2 , which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) called ReNU syndrome. These variants, which almost exclusively arise de novo , act in a dominant fashion and are clustered within 18 nucleotides (nt) in the centre of RNU4-2 . Here we describe a no...

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Literature Corpus work: 7d77f3b9-bce8-541a-8fc3-08f970665cab
DOI: 10.1101/2025.08.13.25333306

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Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes

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