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Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex
Various genetic diseases associated with microcephaly and developmental defects are due to pathogenic variants in the U4atac small nuclear RNA (snRNA), a component of the minor spliceosome essential for the removal of U12-type introns from eukaryotic mRNAs. While it has been shown that a few RNU4ATA...
Autores principales: | Almentina Ramos Shidi, Fatimat, Cologne, Audric, Delous, Marion, Besson, Alicia, Putoux, Audrey, Leutenegger, Anne-Louise, Lacroix, Vincent, Edery, Patrick, Mazoyer, Sylvie, Bordonné, Rémy |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881141/ https://www.ncbi.nlm.nih.gov/pubmed/36537210 http://dx.doi.org/10.1093/nar/gkac1182 |
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