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Digital PCR Quantification of SNV Frequencies in Cultured Fibroblasts of CDG-Affected Individuals
The frequency of the reference SNV is shown for unaffected control cells (“WT”) versus primary fibroblast lines from individuals with CDG-causing mutations (“CDG”) in PMM2 (A), MPI (B), ALG3 (C), ALG12 (D), DPAGT1 (E), and ALG1 (F). Error bars indicate SD.
