Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.C238*
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PNPLA2

NM_020376.4:p.C238*

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 Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Pennisi EM et al.

Orphanet Journal of Rare Diseases, 2017

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.

Massa R et al.

Muscle & Nerve, 2016

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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."