P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2
Resource Type
Abstract
Authors
Moore, Barry ; Nicholas, Thomas ; Mao, Rong ; Shayota, Brian ; Boyden, Steven ; Solorzano, Chelsea ; Palmquist, Rachel ; Bayrak-Toydemir, Pinar ; Noble, Katherine ; Farrell, Andrew ; Hernandez, Edgar ; Rynearson, Shawn ; Holt, Carson ; Ward, Alistair ; Fredrickson, Eric ; Nicholson, Kelsey ; Pattison, David ; Zhao, Jian ; Fulmer, Makenzie ; Pizzo, Lucilla ; Wen, Ting ; O'Shea, John ; Lewis, Robert ; Reynolds, Hayley ; Ostrander, Betsy ; Best, Hunter ; Brunelli, Luca ; Yandell, Mark ; Marth, Gabor ; Quinlan, Aaron ; Carey, John ; Tristani-Firouzi, Martin ; Bonkowsky, Joshua ; Malone-Jenkins, Sabrina
Source
In Genetics in Medicine Open 2023 1(1) Supplement
Subject
Language
ISSN
2949-7744