Clinical impact of splicing in neurodevelopmental disorders
Abstract 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...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2020-04-01
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| coleção: | Genome Medicine |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s13073-020-00737-2 |
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