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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCG8

Variant:p.R263delFs

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ABCG8

NM_022437.3:p.R263delFs

hg38:chr2:43852691 CG>C

Associated Papers

Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.

Huang S et al.

Translational Pediatrics, 2025

40115465 (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."