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Amedeo Smart

Independent Medical Education


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Douben HCW, Nellist M, van Unen L, Elfferich P, et al. High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing. Hum Mutat 2022 Oct 17. doi: 10.1002/humu.24487.
PMID: 36251260


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