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P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders by Robert Lewis, Ting Wen, John O'Shea, Jian Zhao, Steven Boyden, Caleb Hocutt, Erin Baldwin, Jennie Vagher, Ashley Andrews, Thomas Nicholas, Alexander Chapin, Elaine Fan, Jessica Meznarich, David Viskochil, Lorenzo Botto, Pinar Bayrak-Toydemir, Rong Mao
Published 2025-01-01Get full text
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Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencing by Ting Wen, Steven E. Boyden, Caleb M. Hocutt, Robert G. Lewis, Erin E. Baldwin, Jennie Vagher, Ashley Andrews, Thomas J. Nicholas, Alexander Chapin, Elaine M. Fan, Lorenzo D. Botto, Pinar Bayrak-Toydemir, Rong Mao, Jessica A. Meznarich
Published 2025-05-01Get full text
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