Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.L264delFs
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PNPLA2

NM_020376.4:p.L264delFs

Associated Papers

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

Landim JID et al.

Bmc Neurology, 2023

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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."