Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L232_V233Splc
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PNPLA2

NM_020376.4:p.L232_V233Splc

Associated Papers

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Missaglia S et al.

Neuromuscular Disorders : Nmd, 2017

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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."