#ECR-Paper-02 Investigating splice defects in PRPF31 transcripts using targeted long-read sequencing
PangolinPRPF31autosomal dominant retinitis pigmentosaOxford Nanopore TechnologyRP
… (c.856-8T>G, c.946-3C>G, c.239-3C>G, c.855+3G>C). SpliceAI and Pangolin were used for in silico splice prediction. RT-PCR was performed…