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  1. Article

    Open Access

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing ...

    Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes… in Genome Medicine (2022)

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