Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.T339_T340Splc
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CYP27A1

NM_000784.4:p.T339_T340Splc

Associated Papers

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.

Guay SP et al.

Jcem Case Reports, 2024

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