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BioWorld - Wednesday, November 27, 2024
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» New pathogenic variant in NEB confirms diagnosis of nemaline myopathy 2
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Biomarkers
New pathogenic variant in NEB confirms diagnosis of nemaline myopathy 2
March 21, 2023
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Researchers from the University of Utah applied RNASeq analysis for an undiagnosed case of a critically ill newborn with a complex phenotype, with the aim of providing better diagnosis and improving treatment outcomes.
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