Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.Y471C
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DHCR24

NM_014762.4:p.Y471C

Associated Papers

DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.

Kose CC et al.

Journal of Clinical Lipidology, 2025

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