Genetic & Genomic MedicineAnnals of NeurologyPeer-reviewed
Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohort
Alice Saparov, Ivana Dzinovic, Theresa Brunet…·Michael Zech
The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.
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