| Title : Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy - Missaglia_2025_Front.Genet_16_1642442 |
| Author(s) : Missaglia S , Martegani E , Angelini C , Horvath R , Karcagi V , Pal E , Tavian D |
| Ref : Front Genet , 16 :1642442 , 2025 |
| Abstract : |
| PubMedSearch : Missaglia_2025_Front.Genet_16_1642442 |
| PubMedID: 40919432 |
| Title : Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy - Missaglia_2025_Front.Genet_16_1642442 |
| Author(s) : Missaglia S , Martegani E , Angelini C , Horvath R , Karcagi V , Pal E , Tavian D |
| Ref : Front Genet , 16 :1642442 , 2025 |
| Abstract : |
| PubMedSearch : Missaglia_2025_Front.Genet_16_1642442 |
| PubMedID: 40919432 |
| Title : Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy - Missaglia_2025_Front.Genet_16_1642442 |
| Author(s) : Missaglia S , Martegani E , Angelini C , Horvath R , Karcagi V , Pal E , Tavian D |
| Ref : Front Genet , 16 :1642442 , 2025 |
| Abstract : |
| PubMedSearch : Missaglia_2025_Front.Genet_16_1642442 |
| PubMedID: 40919432 |