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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCG8

Variant:p.G432V

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ABCG8

NM_022437.3:p.G432V

hg38:chr2:43873870 G>T

Associated Papers

Putative Pathogenic Variants of ABCG5 and ABCG8 of Sitosterolemia in Patients With Hyper-Low-Density Lipoprotein Cholesterolemia.

Kojima N et al.

Journal of Lipid and Atherosclerosis, 2024

38299163 (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."