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Fig. 3 | Genome Medicine

Fig. 3

From: A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

Fig. 3

The polyclonal assay effectively detects NMD in disease-associated genes. a Effect size in control variants, stop-gained variants after the NMD threshold, and stop-gained variants before the NMD threshold. Triangular points mark variants whose effect size significantly deviates from the control distribution. b The last two exons of NMD disease genes ROR2 and GLI3, showing the effect size (y-axis) and position in the transcript (x-axis) for each successfully edited variant. Disease-associated variants from ClinVar are labeled in red

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