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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...

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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

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