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RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

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Title: RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.
Authors: Lewis, Robert G.1,2 (AUTHOR), O'Shea, John M.1,2 (AUTHOR), Pizzo, Lucilla1,2 (AUTHOR), Wen, Ting1,2,3 (AUTHOR), Fulmer, Makenzie L.1,2 (AUTHOR), Zhao, Jian1,2 (AUTHOR), Verheijen, Jan1,2 (AUTHOR), Zhang, Chaofan1,2 (AUTHOR), Velinder, Matt4 (AUTHOR), Nicholas, Thomas J.4 (AUTHOR), Boyden, Steven E.4 (AUTHOR), Ward, Alistair4 (AUTHOR), Baldwin, Erin E.5 (AUTHOR), Andrews, Ashley5 (AUTHOR), Ruiz, Joselin Hernandez4 (AUTHOR), Marchetti, Marco4 (AUTHOR), Viskochil, David5 (AUTHOR), Carey, John C.5 (AUTHOR), Bleyl, Steven B.5 (AUTHOR), Butterfield, Russell J.6 (AUTHOR)
Source: BMC Medical Genomics. 11/14/2025, Vol. 18 Issue 1, p1-17. 17p.
Database: Academic Search Ultimate
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Description
ISSN:17558794
DOI:10.1186/s12920-025-02227-z