Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders

OBJECTIVE: To evaluate a new tool to aid interpretation of copy number variants (CNVs) in individuals with neurodevelopmental disabilities. METHODS: Critical exon indexing (CEI) was used to identify genes with critical exons (CEGs) from clinically reported CNVs, which may contribute to neurodevelopm...

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Publicado en:Neurol Genet
Main Authors: Wassman, E. Robert, Ho, Karen S., Bertrand, Diana, Davis, Kyle W., Martin, Megan M., Page, Stephanie, Peiffer, Andreas, Prasad, Aparna, Serrano, Moises A., Twede, Hope, Vanzo, Rena, Scherer, Stephen W., Uddin, Mohammed, Hensel, Charles H.
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6927359/
https://ncbi.nlm.nih.gov/pubmed/32042908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000378
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