Fig. 3From: A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndromeSanger sequencing for the splicing effect of g.58,926,242–58,927,621del in the transcript. Exon 15 was skipped in the transcript for the patient (II 2) and the father (I 1)Back to article page