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Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

15 Nov 2021

Abstract excerpt

Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing predictions. Therefore, a targeted RNAseq-based approach was designed to detect pathogenic RNA splicing and associated pathogenic DNA variants. For this method RNA was...

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PMID: 34782607
DOI: 10.1038/s41525-021-00258-w

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