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A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

Erica D. Smith,Kirsten Blanco,Samin A. Sajan,Jesse M. Hunter,Deepali N. Shinde,Bess Wayburn,Mari Rossi,Jennifer Huang,Cathy A. Stevens,Candace Muss,Wendy Alcaraz,Kelly D. Farwell Hagman,Sha Tang,Kelly Radtke

Genetics in Medicine（2019）

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关键词
comorbidity,distinct vs. overlapping phenotypes,multiple genetic diseases,multilocus genomic variation,diagnostic exome sequencing
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