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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27A1

Variant:p.M205V

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CYP27A1

NM_000784.4:p.M205V

hg38:chr2:218812388 A>G

Associated Papers

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Pramparo T et al.

Orphanet Journal of Rare Diseases, 2023

36650582 (PubMed )

Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated

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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."