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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27A1

Variant:p.G472E

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CYP27A1

NM_000784.4:p.G472E

hg38:chr2:218814696 G>A

Associated Papers

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Verrips A et al.

Brain : a Journal of Neurology, 2000

10775536 (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."