Article

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

2021-04-22

Abstract excerpt

<h4>Purpose</h4> 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. A targeted RNAseq-based approach was designed to detect pathogenic RNA splicing and associated pathogenic DNA variants. <h4>Methods</h4> RNA was e...

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Literature Corpus work: ad8be038-8f3f-5b1e-88cf-a94cc3cf24ce
DOI: 10.1101/2021.04.22.21252609

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