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. 2024 Jan 20;9:6. doi: 10.1038/s41525-024-00391-2

Fig. 4. A minigene splicing assay reveals variant-induced aberrant splicing.

Fig. 4

a Diagram illustrating intron sequence retention caused by intronic variants. Gel electrophoresis (b) and Sanger sequencing (c) results of reverse transcription PCR (RT-PCR) products of all tested minigenes. WT wild-type, MT mutation-type, (a) splicing results of wild-type control; (b) splicing results of identified variants.