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Putting the mechanism in perspective Taken together, the mechanistic literature paints a picture that is internally coherent: short peptides penetrate cells, can plausibly bind DNA in a sequence-selective way, and are associated with tissue-specific gene-expression changes

We noted considerable genetic heterogeneity in our cohort with 16 different pathogenic variants identified of which 11 have not been reported previously (Fig

BMJ 382 , e071565 (2023)

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