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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA2

Variant:p.V162_R163Splc

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PNPLA2

NM_020376.4:p.V162_R163Splc

hg38:chr11:822396 G>A

Associated Papers

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Pennisi EM et al.

Orphanet Journal of Rare Diseases, 2017

28499397 (PubMed )

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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."