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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Bibliografski detalji
Izdano u:Neurol Genet
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2019
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Article
Online pristup: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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