Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Nature Genetics, 2017
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders , Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder, Joseph D Buxbaum, Benjamin M Neale , Daniel G MacArthur, Dennis P Wall, Elise B Robinson, Mark J Daly
PMID: 28191890
PMCID: PMC5496244
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