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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Fig. 4

The effect of the variant c.639 + 3 A > C on splicing by minigene assay. The gel electrophoresis results of PCR products using cDNA as a template with PCMINI-F and PCMINI-R primers show a band of 335 bp in the WT and two bands of 335 bp and 252 bp in the MUT with the larger weak band corresponding to the one in WT; The ratio of band a (larger band) to band b (smaller band) in MUT is 1:9. (B) Sanger sequencing results of 335 bp and 252 bp PCR products showed two different splicing patterns; (C) Schematic representation of minigene assay design and transcript products in WT and MUT

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BMC Medical Genomics

ISSN: 1755-8794

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