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    P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey

    P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey by Jessica Cooley Coleman, Adithya Kandhadai, Christa Clinemyer, Timothy Fee, Benjamin Hilton, Barbara DuPont, Michael Lyons, Roger Stevenson, Michael Friez

    Published 2024-01-01
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