Article

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

2025-09-18

Abstract excerpt

<h4>ABSTRACT</h4> Programs for Undiagnosed Rare Diseases (URD) with anonymized data sharing are contributing to the earlier genetic diagnosis of patients and to the identification and characterization of novel genetic disorders. Recently, de novo pathogenic variants in two non-coding spliceosomal small nuclear RNAs (snRNAs), RNU4-2 and RNU2-2 , key regulators of gene expression during neurodevelopment, have been...

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Literature Corpus work: 373d934d-cef3-549f-829b-211f91dceda8
DOI: 10.1101/2025.09.16.25335449

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