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Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24364
Abstract: Next‐generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and has played a significant role in rare disease gene discovery. Although this technology resolves some cases, others are given a list of possibly damaging…
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Keywords:
undiagnosed disease;
disease;
rare undiagnosed;
stakeholders rare ... See more keywords