Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.A267_R268delFs
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PNPLA2

NM_020376.4:p.A267_R268delFs

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

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

Higashi M et al.

International Journal of Cardiology, 2015

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

Reilich P et al.

Journal of Neurology, 2011

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy.

Campagna F et al.

Biochemical and Biophysical Research Communications, 2008

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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."