GeneticsGenetics in Medicine OpenPeer-reviewed
Cell modeling and rescue of a novel non-coding genetic cause of Glycogen Storage Disease IX
Apoorva K. Iyengar, Xue Zou, Jian Dai…·Timothy E. Reddy
The paper identifies a non-coding variant causing GSD IX γ2, validates its splicing effects, and demonstrates reversal using antisense oligonucleotides.
DOI 10.1016/j.gimo.2025.103474