Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA2
Variant:p.G14S
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PNPLA2

NM_020376.4:p.G14S

Associated Papers

Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.

Yamada K et al.

Clinical Neurology and Neurosurgery, 2023

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

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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."