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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927359/
https://www.ncbi.nlm.nih.gov/pubmed/32042908
http://dx.doi.org/10.1212/NXG.0000000000000378

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927359/
https://www.ncbi.nlm.nih.gov/pubmed/32042908
http://dx.doi.org/10.1212/NXG.0000000000000378

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