Clinical impact of splicing in neurodevelopmental disorders

Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has...

Descripción completa

Detalles Bibliográficos
Autores principales: Sanders, Stephan J., Schwartz, Grace B., Farh, Kyle Kai-How
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183108/
https://www.ncbi.nlm.nih.gov/pubmed/32331533
http://dx.doi.org/10.1186/s13073-020-00737-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183108/
https://www.ncbi.nlm.nih.gov/pubmed/32331533
http://dx.doi.org/10.1186/s13073-020-00737-2

Ejemplares similares