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Effect of TNR expansion on splicing in the TCF4 gene. RNASeq analysis of the TCF4 gene shows that in RE+/FECD− and RE+/FECD+ patients, missplicing occurs in the intron region (outlined in black) immediately downstream from the location of the TNR expansion (orange square). This additional sequence is not present in TCF4 transcripts obtained from RE−/FECD− patients.
