Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L205insFs
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PNPLA2

NM_020376.4:p.L205insFs

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.

Shahriyari H et al.

Neuromuscular Disorders : Nmd, 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

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P et al.

Journal of Neurology, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."