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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCG8

Variant:p.L264fs

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ABCG8

NM_022437.3:p.L264fs

hg38:chr2:43852694 CTG>N

Associated Papers

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

Huang S et al.

Translational Pediatrics, 2025

40115465 (PubMed )

Medically Important Alterations in Transport Function and Trafficking of ABCG2.

Homolya L

International Journal of Molecular Sciences, 2021

33801813 (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."