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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Original Articles
Online adgang: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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