Donut Chart from Scientific Research

Summary of the findings in the VC based on protein identification and abundance. In 42% (10/24) of the cases, the protein expected to be affected by the genetic variant is not detected in the patient while it is detected in the controls. In 29% (7/24) of the cases, the protein is not detected via quantitative proteomics, in 21% (5/24) of the cases, the protein is decreased in abundance in the patient compared to the 5 controls, and in 4% (1/24) of the cases, the protein is increased compared to the controls analysed. SNV = single nucleotide variant.

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