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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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  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 11/14/2025, Vol. 18 Issue 1, p1-17. 17p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=189359770
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              Text: 11/14/2025
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