Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy.
Missaglia S et al.
Frontiers in Genetics, 2025
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
Olimpio C et al.
Journal of Neuromuscular Diseases, 2024
Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.
Wang S et al.
Frontiers in Genetics, 2024
39119584 (PubMed )
Supplement: Table1.XLSX › Sheet1
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function.
Tavian D et al.
Human Molecular Genetics, 2012
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