Varaico: Literature-Extracted Genetic Variants

Gene:SC5D
Variant:p.K148E
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SC5D

NM_006918.5:p.K148E

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

Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

Anderson R et al.

Jimd Reports, 2019

Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome.

Ho AC et al.

Jimd Reports, 2014

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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."