Article
Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.
Neuron - 21 May 2014
Takata Atsushi, Xu Bin, Ionita-Laza Iuliana, Roos J Louw, Gogos Joseph A, Karayiorgou Maria
Abstract excerpt
Loss-of-function (LOF) (i.e., nonsense, splice site, and frameshift) variants that lead to disruption of gene function are likely to contribute to the etiology of neuropsychiatric disorders. Here, we perform a systematic investigation of the role of both de novo and inherited LOF variants in schizophrenia using exome sequencing data from 231 case and 34 control trios. We identify two de novo LOF variants in the...
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