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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.D354Splc

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LDLR

NM_000527.5:p.D354Splc

hg38:chr19:11110772 G>C

Associated Papers

Vascular calcifications in homozygote familial hypercholesterolemia.

Awan Z et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2008

18239150 (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."