Minigene-based splicing analysis uncovers pathogenic splice-altering effects of PAX2
Abstract Background Missense variants in disease-associated genes cause aberrant pre-mRNA splicing, carrying profound implications for molecular diagnostics, pathogenic mechanism elucidation, and personalized therapy development. The distinct genotype-phenotype correlation observed in PAX2-related d...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2026-04-01
|
| Schriftenreihe: | BMC Pediatrics |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12887-026-06843-1 |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|