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...
Na minha lista:
| Principais autores: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2026-04-01
|
| coleção: | BMC Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12887-026-06843-1 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|