Associated Papers
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
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2019
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH et al.
Human Mutation, 2019
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Missaglia S et al.
Cells, 2019
Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
Lin P et al.
Journal of Human Genetics, 2012
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