Open access
Sep 2026
A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome
A robust RNA biomarker for T-loop ReNU syndrome for use in therapeutic development is defined, and a general framework for portable biomarker discovery in spliceopathies is illustrated.
Ruebena Dawes, A. Blakes, Theodora Markati et al.
· medRxiv · 0 citations