Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.G470_Y471delFs
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CYP27A1

NM_000784.4:p.G470_Y471delFs

Associated Papers

A case of cerebrotendinous xanthomatosis with brain and spinal involvement without tendon xanthomas: Identification of a novel mutation of the CYP27A1 gene.

Stenos C et al.

Journal of Clinical Lipidology, 0

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