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Genetics in Medicine Open
(Jan 2023)
P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq
Jian Zhao,
Nicola Longo,
Robert Lewis,
Thomas Nicholas,
Steven Boyden,
Ashley Andrews,
Austin Larson,
Pinar Bayrak-Toydemir,
Lorenzo Botto,
Rong Mao
Affiliations
Jian Zhao
Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT
Nicola Longo
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Robert Lewis
Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT
Thomas Nicholas
Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT
Steven Boyden
Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT
Ashley Andrews
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Austin Larson
Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO
Pinar Bayrak-Toydemir
Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT
Lorenzo Botto
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT
Rong Mao
Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UT
Journal volume & issue
Vol. 1, no. 1
p. 100642
Abstract
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