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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCG8

Variant:p.Q55_V56Splc

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ABCG8

NM_022437.3:p.Q55_V56Splc

hg38:chr2:43844713 G>C

Associated Papers

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I et al.

Journal of Clinical Lipidology, 0

29066094 (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."