Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. To explore its molecular consequences, we performed RNA sequencing of cerebral cortex f...

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Hlavní autoři: Blumenthal, Ian, Ragavendran, Ashok, Erdin, Serkan, Klei, Lambertus, Sugathan, Aarathi, Guide, Jolene R., Manavalan, Poornima, Zhou, Julian Q., Wheeler, Vanessa C., Levin, Joshua Z., Ernst, Carl, Roeder, Kathryn, Devlin, Bernie, Gusella, James F., Talkowski, Michael E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121471/
https://ncbi.nlm.nih.gov/pubmed/24906019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.05.004
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