Varaico: Literature-Extracted Genetic Variants

Gene:SC5D
Variant:p.Q72*
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SC5D

NM_006918.5:p.Q72*

Associated Papers

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.

Yaplito-Lee J et al.

Jimd Reports, 2020

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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."