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Global increases in both common and rare copy number load associated with autism

Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individual...

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Detalhes bibliográficos
Main Authors: Girirajan, Santhosh, Johnson, Rebecca L., Tassone, Flora, Balciuniene, Jorune, Katiyar, Neerja, Fox, Keolu, Baker, Carl, Srikanth, Abhinaya, Yeoh, Kian Hui, Khoo, Su Jen, Nauth, Therese B., Hansen, Robin, Ritchie, Marylyn, Hertz-Picciotto, Irva, Eichler, Evan E., Pessah, Isaac N., Selleck, Scott B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3690969/
https://ncbi.nlm.nih.gov/pubmed/23535821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt136
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