Cargando…
Splicing in the Diagnosis of Rare Disease: Advances and Challenges
Mutations which affect splicing are significant contributors to rare disease, but are frequently overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic splicing variants will increase diagnostic yields, ending the diagnostic odyssey for patients and families affected by r...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280750/ https://www.ncbi.nlm.nih.gov/pubmed/34276790 http://dx.doi.org/10.3389/fgene.2021.689892 |