P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 Barry Moore , Thomas Nicholas , Rong Mao , Brian Shayota , Steven Boyden , Chelsea Solorzano , Rachel Palmquist , Pinar Bayrak-Toydemir , Katherine Noble , Andrew Farrell , Edgar Hernandez , Shawn Rynearson , Carson Holt , Alistair Ward , Eric Fredrickson , Kelsey Nicholson , David Pattison , Jian Zhao , Makenzie Fulmer , Lucilla Pizzo , Ting Wen , John O'Shea , Robert Lewis , Hayley Reynolds , Betsy Ostrander , Hunter Best , Luca Brunelli , Mark Yandell , Gabor Marth , Aaron Quinlan , John Carey , Martin Tristani-Firouzi , Joshua Bonkowsky , Sabrina Malone-Jenkins Genetics in Medicine Open（2023）
关键词
neonatal nemaline, rnaseq analysis, diagnosis, splice-region
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