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Fibroblast Transcriptomics Uncovers Pathogenic Genomic Variants in Individuals with Exome-Negative Childhood Onset Epilepsy.

Noor Smal,Charissa Millevert,Matthias De Wachter, Els De Vriendt, Zakaria Eddafir,An-Sofie Schoonjans,Allan Bayat,Rikke Steensbjerre Moller,Davide Mei,Simona Balestrini,Renzo Guerrini, Marije E. C. Meeuwissen,Anna C. Jansen,Sarah Weckhuysen

EPILEPSIA（2025）

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关键词
childhood epilepsy,diagnostics,RNA sequencing
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