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Genetics in Medicine Open
(Jan 2023)
P499: RNA-sequencing positional gene enrichment is a useful tool in resolving cases of X chromosome copy number variation
Robert Lewis,
David Viskochil,
Ashley Andrews,
Karin Dent,
Rong Mao,
Lorenzo Botto,
Pinar Bayrak-Toydemir
Affiliations
Robert Lewis
Department of Pathology, University of Utah, Salt Lake City, UT; ARUP Laboratories, Salt Lake City, UT
David Viskochil
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Ashley Andrews
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Karin Dent
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Rong Mao
Department of Pathology, University of Utah, Salt Lake City, UT; ARUP Laboratories, Salt Lake City, UT
Lorenzo Botto
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Pinar Bayrak-Toydemir
Department of Pathology, University of Utah, Salt Lake City, UT; ARUP Laboratories, Salt Lake City, UT
Journal volume & issue
Vol. 1, no. 1
p. 100546
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