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Intragenic and structural variants in our cohort of patients with KBG. (A) ANKRD11 intragenic variants plotted on the protein diagram; numbers in parentheses indicate recurrence of a variant. (B) Large deletions in chromosome 16q24 visualised in UCSC Genome Browser (http://genome.ucsc.edu), assembly hg38. Zoom-in on the right shows the position of breakpoints relative to ANKRD11 exons. AD, activation domain; ANK, ankyrin repeats; RD, repressor domain.
