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RNU12: RNU12 is a non-coding RNA that is associated with various genetic conditions. It is one of the snRNAs, which are small nuclear RNAs that play a role in RNA splicing [PMC7073466]. In a recent study, a mutation in RNU12 was found to be associated with an autosomal recessive spinocerebellar ataxia (SCA) [PMC5815091]. This mutation was detected through the combination of whole-genome sequencing (WGS) and RNA sequencing (RNAseq) analysis in a large consanguineous family [PMC5815091]. The mutation in RNU12 was found to cause minor intron retention in homozygous mutant patients, leading to cerebral ataxia [PMC6497742]. These findings highlight the importance of non-coding RNAs, such as RNU12, in genetic disorders and provide insights into the molecular mechanisms underlying these conditions. Further research is needed to fully understand the role of RNU12 and its potential therapeutic implications for these disorders.
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