Fig. 2From: Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case reportWhole-exome sequencing (WES) and Sanger sequencing revealed compound heterozygous truncating variants c.1207C > T (p.Gln403*), c.52_53delAC (p.Cys18Glnfs*7)) in AP4B1(NM_001253852.2). Electrochromatograms illustrated the variants in patient (arrow) and his parents. wt, wildtypeBack to article page