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Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
|Publication Type||Journal Article|
|Authors||Gupta, AR, Pirruccello M., Cheng F., Kang HJ, Fernandez TV, Baskin JM, Choi M., Liu L., Ercan-Sencicek AG, Murdoch JD, Klei L., Neale BM, Franjic D., Daly M. J., Lifton RP, De Camilli P., Zhao H., Sestan N., and State MW|
|Abstract||Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide PtdIns4P, which has a variety of functions at the neural synapse. We hypothesized that deleterious mutations in EFR3A would be significantly associated with ASD.|
|Year of Publication||2014|
|Date Published (YYYY/MM/DD)||2014/01/01|