Fig. 2From: First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations a Integrative Genomics Viewer of short read alignment indicated the compound heterozygous variant identified by exome sequencing (100,479,778 T/−,100712001AT/−) in the VPS13B gene. b Sanger validation shows the compound heterozygosity of the proband II1 formed by the c.3582delT mutation, and the c.6295_6296delAT mutationBack to article page