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Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopment...

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Autors principals: Cuscó, Ivon, Corominas, Roser, Bayés, Mònica, Flores, Raquel, Rivera-Brugués, Núria, Campuzano, Victoria, Pérez-Jurado, Luis A.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2336808/
https://ncbi.nlm.nih.gov/pubmed/18292220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.073197.107
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