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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPD

Variant:p.N241I

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HPD

NM_002150.3:p.N241I

hg38:chr12:121847089 T>A

Associated Papers

The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway.

Banh RS et al.

Nature, 2021

34471290 (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."