RNA sequencing resolves cryptic pathogenic variants in mitochondrial disease
Z.H. Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chao‐Jin Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, T Y Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, , Fang Fang
This study uses RNA sequencing to identify pathogenic variants in mitochondrial disease patients who were undiagnosed by DNA sequencing, revealing cryptic splicing and regulatory events.
Annals of Clinical and Translational Neurology · Apr 25, 2026Peer-reviewedGenetic & Genomic Medicine