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. 2020 Jan 22;22(5):974–978. doi: 10.1038/s41436-020-0749-x

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Fig. 1 — a Patient with a clinical diagnosis of oral–facial–digital syndrome for whom a diagnostic Alu was identified in exon 6 of the OFD1 gene. b Clipped read evidence of a minus strand Alu can be seen in proband, but not in either parent indicating a de novo event.