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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.D224delFs

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LDLR

NM_000527.5:p.D224delFs

hg38:chr19:11105576 GAC>G

Associated Papers

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Zubarioglu T et al.

Molecular Genetics and Metabolism, 2024

38772327 (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."