Fig. 2
From: Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Variant types and genes in this study. (a) Distribution of the variant number per disease-causing genes. The number in parentheses indicates the number of genes. The genes with ≥ 4 detected variants are listed. (b) Number of pathogenic single nucleotide variants (SNVs), indels, and copy number variants (CNVs). (c) Proportion of causative genes and CNVs for three major phenotypes. The numbers indicate the number of variants.
