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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
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