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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Detalhes bibliográficos
Publicado no: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 em: Wolters Kluwer 2019
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Article
Acesso em linha: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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