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Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

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5. Neurodevelopmental copy-number variants A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.pdf (666.72 KB)

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2022

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Article

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Artículos Medicina y Ciencias de la Salud

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https://doi.org/10.1016/j.ajhg.2022.07.003

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https://repositorio.udd.cl/handle/11447/7218

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Abstract

Copy-number variants and structural variants (CNVs/SVs) drive many neurodevelopmental-related disorders. While many neurodevelopmental-related CNVs/SVs give rise to complex phenotypes, the overlap in ...

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Citation

Commission on Novel Technologies for Neurodevelopmental Copy Number Variants. Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact. Am J Hum Genet. 2022 Aug 4;109(8):1353-1365. doi: 10.1016/j.ajhg.2022.07.003

Keywords

DNA Copy Number Variations , Genetics , Genome , Neurodevelopmental Disorders / genetics , Phenotype , Neurodevelopmental Disorders / therapy , Patient Advocacy

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