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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

Pubmed ID: 
32313153
Year: 
2020
Month: 
Apr
Citation: 
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in medicine : official journal of the American College of Medical Genetics (2020) PubMed (Grant IDs: 1026891)