Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.E288fs
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CYP27A1

NM_000784.4:p.E288fs

Associated Papers

Four novel CYP27A1 mutations in seven Italian patients with CTX.

Gallus GN et al.

European Journal of Neurology, 2010

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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."