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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.A480fs

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LDLR

NM_000527.5:p.A480fs

hg38:chr19:11113614 GCT>N

Associated Papers

Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.

Kholaif N et al.

Atherosclerosis, 2025

40339360 (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."