Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.S203L
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CYP27A1

NM_000784.4:p.S203L

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

Patient-derived xenografts and organoids model therapy response in prostate cancer.

Karkampouna S et al.

Nature Communications, 2021

33602919 (PubMed )
Supplement: 41467_2021_21300_MOESM5_ESM.xlsx › somatic_mutations_PNPCa
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