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    Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

    Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease 由 Marisa W. Friederich, Abdallah F. Elias, Alice Küster, Lucia Laugwitz, Austin Larson, Aaron P. Landry, Logan Ellwood‐Digel, David M. Mirsky, David Dimmock, Jaclyn Haven, Hua Jiang, Kenneth N. Maclean, Katie Styren, Jonathan Schoof, Louise Goujon, T. Lefrançois, Maike Friederich, Curtis R. Coughlin, Ruma Banerjee, Tobias B. Haack, Johan L.K. Van Hove

    出版 2020
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