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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158506
Abstract: The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certain analyses,…
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Keywords:
actionability;
objective evaluation;
involved myopathies;
actionability genes ... See more keywords