Fig. 2.

UCSC Genome Browser view in GRCh37/hg19 showing TRAPPC9 gene (https://genome.ucsc.edu). Top, patients’ disease-associated variants from the literature[1–9]. Bottom, CNVs and point disease-associated variants found in the present study. HGVS names are based on NM_031466.5 and NG_016478.2 sequences. Except for patients 1 and 2 who are compound heterozygotes, all patient are homozygotes