Clinical impact of splicing in neurodevelopmental disorders.
Genome Med
; 12(1): 36, 2020 04 24.
Article
en En
| MEDLINE
| ID: mdl-32331533
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 site has been challenging. Here, we discuss papers that improve such detection.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Empalme del ARN
/
Trastornos del Neurodesarrollo
Límite:
Humans
Idioma:
En
Revista:
Genome Med
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos