Rare developmental disorder caused by variants in a small RNA gene

Henrike Heyne ()

Nature, 2024, vol. 632, issue 8026, 747-748

Abstract: Genetic variants in RNU4-2, a gene in a part of the genome not usually in the spotlight, have been identified as the cause of a developmental disorder in a large number of individuals who previously lacked a diagnosis.

Keywords: Genomics; Diseases; DNA sequencing; Non-coding RNAs (search for similar items in EconPapers)
Date: 2024
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DOI: 10.1038/d41586-024-02434-1

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