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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.D221_D227insFs

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LDLR

NM_000527.5:p.D221_D227insFs

hg38:chr19:11105567 G>GACTGCAAGGACAAATCTGAC

Associated Papers

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

Hollants S et al.

Clinical Chemistry, 2012

22294733 (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."