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Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

A large fraction of genome variation between individuals is comprised of submicroscopic copy number variation of genomic DNA segments. We assessed the relative contribution of structural changes and gene dosage alterations on phenotypic outcomes with mouse models of Smith-Magenis and Potocki-Lupski...

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Detalles Bibliográficos
Autores principales: Ricard, Guénola, Molina, Jessica, Chrast, Jacqueline, Gu, Wenli, Gheldof, Nele, Pradervand, Sylvain, Schütz, Frédéric, Young, Juan I., Lupski, James R., Reymond, Alexandre, Walz, Katherina
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2990707/
https://www.ncbi.nlm.nih.gov/pubmed/21124890
http://dx.doi.org/10.1371/journal.pbio.1000543