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Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

PURPOSE: We investigated the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders. METHODS: Subsets of 1507 genes were tested using next-generation sequencing to simultaneously detect sequence variants and C...

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Detalles Bibliográficos
Autores principales:	Truty, Rebecca, Paul, Joshua, Kennemer, Michael, Lincoln, Stephen E., Olivares, Eric, Nussbaum, Robert L., Aradhya, Swaroop
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752305/ https://www.ncbi.nlm.nih.gov/pubmed/29895855 http://dx.doi.org/10.1038/s41436-018-0033-5

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