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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

Genetics in Medicine Open（2023）

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