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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27A1

Variant:p.Y99C

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CYP27A1

NM_000784.4:p.Y99C

hg38:chr2:218809617 A>G

Associated Papers

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.

Wang Z et al.

Frontiers in Endocrinology, 2022

35370969 (PubMed )

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Wong JC et al.

Journal of Inherited Metabolic Disease, 2018

29484516 (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."