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    Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

    Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy by Sara Missaglia, Sara Missaglia, Eleonora Martegani, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal, Endre Pal, Daniela Tavian, Daniela Tavian

    Published 2025-08-01
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