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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27A1

Variant:p.Y471delins

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CYP27A1

NM_000784.4:p.Y471delins

hg38:chr2:218814694 T>C

Associated Papers

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Jacinto-Scudeiro LA et al.

Frontiers in Neurology, 2019

31231294 (PubMed )

Supplement: Table_1.DOCX

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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."