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De novo TBR1 mutations in sporadic autism disrupt protein functions

Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the appro...

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Main Authors: Deriziotis, Pelagia, O’Roak, Brian J., Graham, Sarah A., Estruch, Sara B., Dimitropoulou, Danai, Bernier, Raphael A., Gerdts, Jennifer, Shendure, Jay, Eichler, Evan E., Fisher, Simon E.
格式: Artigo
語言:Inglês
出版: 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4212638/
https://ncbi.nlm.nih.gov/pubmed/25232744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms5954
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