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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HMGCR

Variant:p.K288K

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HMGCR

NM_000859.3:p.K288K

hg38:chr5:75350872 G>A

Associated Papers

The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.

Nickerson ML et al.

Human Mutation, 2013

23169578 (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."