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<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders

2024-04-08

Abstract excerpt

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA RNU4-2 as a novel syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a...

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Literature Corpus work
da61dd08-db9b-5d87-bd08-87839e3a217a
DOI
10.1101/2024.04.07.24305438
Open publication

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<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disordersDOI 10.1101/2024.04.07.24305438
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