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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549560/
https://ncbi.nlm.nih.gov/pubmed/32767738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1439
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