Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia
Genetic Predisposition to Disease
RNA, Small Nuclear
Interference with particular spliceosome components, including small nuclear RNAs, cause reproducible uniquely distributed phenotypic and transcript-specific effects, making this an important category of disease-associated mutation. Our approach to differential expression analysis of minor intron-containing genes is applicable to other diseases involving altered transcriptome processing. ANN NEUROL 2017;81:68-78.