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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduriaJOURNAL OF INHERITED METABOLIC DISEASEOlahova, M., Thompson, K., Hardy, S. A., Barbosa, I. A., Besse, A., Anagnostou, M., White, K., Davey, T., Simpson, M. A., Champion, M., Enns, G., Schelley, S., Lightowlers, R. N., Chrzanowska-Lightowlers, Z. M., McFarland, R., Deshpande, C., Bonnen, P. E., Taylor, R. W.2017; 40 (1): 121-130