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C. Rinaldi

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Open access Sep 2026

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome

ReNU syndrome is a severe neurodevelopmental disorder caused by de novo variants in the spliceosomal small nuclear RNA (snRNA) gene RNU4-2. Pathogenic variants cluster in two distinct structural regions of the U4 snRNA produced by RNU4-2, the T-loop and Stem III. Aberrant 5' splice site selection is a molecular hallmar...

R. Dawes, A. Blakes, T. Markati et al. · 0 citations

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