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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Hlavní autoři: Ricard, Guénola, Molina, Jessica, Chrast, Jacqueline, Gu, Wenli, Gheldof, Nele, Pradervand, Sylvain, Schütz, Frédéric, Young, Juan I., Lupski, James R., Reymond, Alexandre, Walz, Katherina
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2990707/
https://ncbi.nlm.nih.gov/pubmed/21124890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pbio.1000543
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