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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.K120fs

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LDLR

NM_000527.5:p.K120fs

hg38:chr19:11105264 A>AN

Associated Papers

Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Wang X et al.

Journal of Geriatric Cardiology : Jgc, 2018

30108616 (PubMed )

Supplement: jgc-15-06-434-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."