Elsaid MF, et al. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.Ann. Neurol. 2017; 81(1):68-78, PMID: 27863452.
Xing C, et al. Biallelic variants in RNU12 cause CDAGS syndrome.Hum. Mutat. 2021;42(8):1042-1052. PMID: 34085356.
RNU12