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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.E600_E602delFs

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LDLR

NM_000527.5:p.E600_E602delFs

hg38:chr19:11116951 GAGGATGA>G

Associated Papers

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Stevens CAT et al.

Journal of the American Heart Association, 2024

38879446 (PubMed )

Supplement: JAH3-13-e034434-s001.pdf

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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."