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On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.

Thiffault I, Cadieux-Dion M, Farrow E, Caylor R, Miller N, Soden S, Saunders C. On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing. Hum Mutat. 2018 11; 39(11):1505-1516.

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