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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.K225_E228delins

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LDLR

NM_000527.5:p.K225_E228delins

hg38:chr19:11105579 AAATCTGACG>TGCA

Associated Papers

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Gabčová D et al.

Physiological Research, 2017

27824480 (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."