Genetic & Genomic MedicinemedRxivPreprint
A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome
Ruebena Dawes, Alexander J. M. Blakes, Theodora Markati…·Nicola Whiffin
The paper identifies a cross-tissue splicing signature as a biomarker for ReNU syndrome, distinguishing affected individuals from controls with high specificity.
DOI 10.64898/2026.09.26.26364077