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Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-019-02103-8
Abstract: Genome sequencing is used to make genetic diagnoses in critically ill infants with rapid turnaround time (TAT). Herein, to delineate the value of a genetic diagnosis, we provide the results from 130 pediatric patients in…
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Keywords:
ill infants;
trio genome;
critically ill;
genome sequencing ... See more keywords