Sep 2026
A De Novo 16p13.3 Triplication Underlying Early-Onset Complex Neurodegeneration.
These findings support a role for structural variation in early-onset neurodegeneration and highlight the value of combining short-read copy-number profiling with long-read WGS to detect and characterize complex genomic rearrangements.
Ze-Hong Zheng, Ru-Ying Yuan, Min Fang et al.
· Movement Disorders · 0 citations