Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq
Roelof Koster, Rita D. Brandão, Demis Tserpelis…·Marinus J. Blok
This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.
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