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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCG5

Variant:p.R389C

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ABCG5

NM_022436.3:p.R389C

hg38:chr2:43824072 G>A

Associated Papers

Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.

Tada MT et al.

Circulation. Genomic and Precision Medicine, 2022

35549507 (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."