Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L232delFs
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PNPLA2

NM_020376.4:p.L232delFs

Associated Papers

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients.

Noguera NI et al.

Biomolecules, 2023

Lipolysis and lipophagy in lipid storage myopathies.

Angelini C et al.

Biochimica Et Biophysica Acta, 2016

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."