Scatter Plot from Scientific Research

Targeted RNA-sequencing of VHL mRNA from edited cells was performed to calculate RNA scores for n = 1,626 exonic SNVs. The relationship between RNA scores and function scores reveals most LoF variants are expressed at normal levels in mRNA, and only low RNA scores reliably predict LoF at the cellular level (Extended Data Fig. 4c ). Two synonymous variants shown independently to disrupt splicing are indicated 23 , 57 , as well as c.462A>C, the splice region variant with the lowest RNA score.

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