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Homozygous missense mutation in UQCRC2 associated with severe encephalomyopathy, mitochondrial complex III assembly defect and activation of mitochondrial protein quality control.
Burska D, Stiburek L, Krizova J, Vanisova M, Martinek V, Sladkova J, Zamecnik J, Honzik T, Zeman J, Hansikova H, Tesarova M. Burska D, et al. Among authors: vanisova m. Biochim Biophys Acta Mol Basis Dis. 2021 Aug 1;1867(8):166147. doi: 10.1016/j.bbadis.2021.166147. Epub 2021 Apr 15. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33865955