Fig. 5From: A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndromeConfirmation of variant-induced spliceogenicity. A Identification of a short transcript in IV-1 with a 228-bp deletion downstream of exons 23–26 s attributable to the c.4342 + 5_4342 + 8delGTGA variation of exon 24. B Representative electropherograms of the pathogenic variant (IV-1-469 bp) and normal gene (724 bp)Back to article page