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. 2021 Nov 17;145(4):1507–1518. doi: 10.1093/brain/awab395

Figure 5.

Figure 5

Molecular pathways affected. (A) GO enrichment analysis of genes and proteins leading to paediatric neurogenetic disease in our cohort. Gene IDs were converted into Uniprot IDs and imported into Uniprot. Genes mapped to proteins were then classified based on their GO biological process and then manually grouped into major classes such as Protein production and degradation or metabolism. (B) Proteomap of detected disease genes in our cohort.