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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.V127V

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LDLR

NM_000527.5:p.V127V

hg38:chr19:11105287 C>T

Associated Papers

Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Danyel M et al.

Scientific Reports, 2019

31427613 (PubMed )

Supplement: 41598_2019_48402_MOESM1_ESM.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."