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Scheme of the complementation assay. Cells from DBA patients have a loss‐of‐function mutation in RPS19 that cause the accumulation of 21S rRNA. Expression of either wild‐type RPS19 or RPS19 with a benign sequence variant allows the rescue of the rRNA processing defect. On the contrary, expression of a RPS19 transgene carrying a deleterious mutation does not recover the pathological phenotype
