Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

BACKGROUND: Establishing a genetic diagnosis for individuals with intellectual disability (ID) benefits patients and their families as it may inform the prognosis, lead to appropriate therapy, and facilitate access to medical and supportive services. Exome sequencing has been successfully applied in...

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Detalles Bibliográficos
Autores principales: Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549560/
https://www.ncbi.nlm.nih.gov/pubmed/32767738
http://dx.doi.org/10.1002/mgg3.1439

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549560/
https://www.ncbi.nlm.nih.gov/pubmed/32767738
http://dx.doi.org/10.1002/mgg3.1439

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