Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
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Sci Adv. 2022 Mar 4;8(9):eabm5386. doi: 10.1126/sciadv.abm5386. Epub 2022 Mar 4.
Sci Adv. 2022.
PMID: 35245110
Free PMC article.