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Browsing Center for Genomic Regulation (CRG) by Author "Falkous, Gavin"

Browsing Center for Genomic Regulation (CRG) by Author "Falkous, Gavin"

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  • Lim, Albert Z.; McMacken, Grace M.; Rastelli, Francesca; Oláhová, Monika; Baty, Karen; Hopton, Sila; Falkous, Gavin; Töpf, Ana; Lochmüller, Hanns; Marini-Bettolo, Chiara; McFarland, Robert; Taylor, Robert W. (Elsevier, 2020)
    Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNATyr, ...

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