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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 by Sara Missaglia, Sara Missaglia, Eleonora Martegani, Eleonora Martegani, Corrado Angelini, Rita Horvath, Veronika Karcagi, Endre Pal, Endre Pal, Daniela Tavian, Daniela Tavian
Published 2025-08-01Get full text
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