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Updated: Aug 2, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Hamed Ghoshouni1, Roham Sarmadian2, Rana Irilouzadian3

  • 1Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Journal of Investigative Medicine High Impact Case Reports
|April 21, 2023
PubMed

Keywords:
CDG type IIhCOG8 geneCTX disorderCYP27A1 gene

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