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3. Management and Impact

Professor Graeme Black completes the case study provided by Manchester Centre for Genomic Medicine with an overview of the management of the case

Professor Graeme Black describes the clinical diagnosis of Cerebrotendinous Xanthomatosis in the two boys caused by a variant in the gene CYP27A1

More information can be found about this gene and condition here Gene cards CYP27A1, what family of proteins is it a member of?

What effect does a variant in this gene have on the protein?
You can look at this gene in more detail within Ensembl CYP27A1 transcript.
Which chromosome is it found on and how many protein coding exons does it have?
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Clinical Bioinformatics: Unlocking Genomics in Healthcare

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