Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
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Grange LJ, et al. Among authors: stewart gs.
Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8.
Nat Commun. 2022.
PMID: 36333305
Free PMC article.