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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PNPLA3

Variant:p.V162_R163Splc

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PNPLA3

NM_025225.3:p.V162_R163Splc

hg38:chr22:43928975 G>A

Associated Papers

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.

Kohlmaier B et al.

International Journal of Obesity (2005), 2024

39277655 (PubMed )

Supplement: 41366_2024_1634_MOESM1_ESM.docx

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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."