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Clinical RNA Sequencing Clarifies Variants of Uncertain Significance Identified by Prior Testing

Jonathan Marquez, Jennifer N. Cech,Cate R. Paschal,Bri Dingmann,Anna I. Scott,Jenny M. Thies, Maria R. Mills,Catherine M. Albert,Anita E. Beck,Erika Beckman,Emily S. Bonkowski,Dawn L. Earl,Christina T. Lam,Heather C. Mefford,J Lawrence Merritt,Zoe Nelson,Timothy JD. Ohlsen,Mallory R. Taylor,Seth J. Perlman,Erin R. Rudzinski

Genetics in Medicine Open（2024）

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Key words
RNA sequencing,variant of uncertain significance,clinical genetic testing,splice variants,germline testing
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