Additional file 3 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

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Figshare2025-05-22 更新2026-04-08 收录

蛋白质组学生物标志物

线粒体疾病诊断

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_3_of_Untargeted_proteomics_enables_ultra-rapid_variant_prioritisation_in_mitochondrial_and_other_rare_diseases/29124413 数据链接链接失效反馈

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资源简介：

Additional file 3: Table S2: Relative Complex Abundance (RCA) and Respiratory Chain Enzymology (RCE) results for the validation cohort (VC).

提供机构：

Peters, Heidi; Robinson, David R. L.; Bournazos, Adam M.; Amarasekera, Sumudu S. C.; Attard, Chantal; Hock, Daniella H.; Bi, Weimin; Samarasinghe, Amanda; Stroud, David A.; Christodoulou, John; Tregoning, Simone; Lake, Nicole J.; Ryder, Bryony; Wallis, Mathew J.; Stark, Zornitza; Frajman, Leah E.; McFarland, Robert; Semcesen, Liana N.; Lee, Joy; Lek, Monkol; Stait, Tegan; Ball, Megan; Beck, Cara; Compton, Alison G.; Cooper, Sandra T.; Reljic, Boris; Freckmann, Mary-Louise; Karlaftis, Vasiliki; Brown, Rosie; Ryan, Michael T.; Vasudevan, Anand; Taylor, Robert W.; Caruana, Nikeisha J.; Thorburn, David R.; Formosa, Luke E.; Monagle, Paul; Tan, Natalie B.

创建时间：

2025-05-22

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