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Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12081250
Abstract: Rare diseases cumulatively affect a significant number of people, and for many, a diagnosis remains elusive. The Victorian Undiagnosed Disease Program (UDP-Vic) utilizes deep phenotyping, advanced genomic sequencing and functional studies to diagnose children with…
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Keywords:
victorian undiagnosed;
undiagnosed disease;
disease;
genomic sequencing ... See more keywords