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P516: RNASeq analysis identifies the pathogenicity of inher..:
Moore, Barry
;
Nicholas, Thomas
;
Mao, Rong
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100563 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100563
RT Journal T1
P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100563&Exemplar=1&LAN=DE A1 Moore, Barry A1 Nicholas, Thomas A1 Mao, Rong A1 Shayota, Brian A1 Boyden, Steven A1 Solorzano, Chelsea A1 Palmquist, Rachel A1 Bayrak-Toydemir, Pinar A1 Noble, Katherine A1 Farrell, Andrew A1 Hernandez, Edgar A1 Rynearson, Shawn A1 Holt, Carson A1 Ward, Alistair A1 Fredrickson, Eric A1 Nicholson, Kelsey A1 Pattison, David A1 Zhao, Jian A1 Fulmer, Makenzie A1 Pizzo, Lucilla A1 Wen, Ting A1 O'Shea, John A1 Lewis, Robert A1 Reynolds, Hayley A1 Ostrander, Betsy A1 Best, Hunter A1 Brunelli, Luca A1 Yandell, Mark A1 Marth, Gabor A1 Quinlan, Aaron PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100563 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100563 DO https://doi.org/10.1016/j.gimo.2023.100563 SF ELIB - SuUB Bremen
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