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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.L332_K333Fs

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LDLR

NM_000527.5:p.L332_K333Fs

hg38:chr19:11110707 TAA>G

Associated Papers

Whole exome sequencing and 12-SNP LDL polygenic score in South Indian patients with familial hypercholesterolemia.

Abraham N et al.

Scientific Reports, 2026

41764281 (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."