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Briefly, somatic variants are identified by WES

As the liver is unable to properly excrete excess copper through bile, SCC serves as an alternative pathway for the body to eliminate this excess copper via the kidneys into the urine which is a key diagnostic indicator and monitor for the success of therapy (12)

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10.1007/s00210-024-03485-x [DOI] [PubMed] [Google Scholar] Wellman A