Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.F2_P3insFs
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PNPLA2

NM_020376.4:p.F2_P3insFs

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

Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.

Angelini C et al.

Jimd Reports, 2018

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