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A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.
Grozdanov PN, Masoumzadeh E, Kalscheuer VM, Bienvenu T, Billuart P, Delrue MA, Latham MP, MacDonald CC. Grozdanov PN, et al. Among authors: macdonald cc. Nucleic Acids Res. 2020 Sep 25;48(17):9804-9821. doi: 10.1093/nar/gkaa689. Nucleic Acids Res. 2020. PMID: 32816001 Free PMC article.
55 results