Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L205fs
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PNPLA2

NM_020376.4:p.L205fs

Associated Papers

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
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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."