The qMini assay identifies an overlooked class of splice variants
Bin Guan, Chelsea Bender, Madhulatha Pantrangi, Nia Moore, Melissa J. Reeves, Amelia Naik, Huirong Li, Kerry Goetz, Delphine Blain, Aime R. Agather, Catherine A. Cukras, Wadih M. Zein, Laryssa A. Huryn, Brian P. Brooks, Robert B. Hufnagel
The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.
medRxiv · Nov 2, 2023 · PreprintGenetic & Genomic Medicine