Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.

After excluding genesets driven solely by one highly significant gene, two genesets remained significant: ‘GOBP: regulation of mRNA splicing via spliceosome’ ( GO:0048024 , 96 genes, P = 2.97 × 10 −7 ) and its parent term ‘GOBP: regulation of RNA splicing’ ( GO:0043484 , 142 genes, P = 3.50 × 10 −6 ) (Fig. 2d and Extended Data Fig. 3d ).

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