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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FDFT1

Variant:p.Q64H

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FDFT1

NM_001287750.2:p.Q64H

hg38:chr8:11808709 G>C

Associated Papers

Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children.

Groselj U et al.

Atherosclerosis, 2025

39591895 (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."