Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene

Biallelic variants in RNU4ATAC, a non-coding gene transcribed into the minor spliceosome component U4atac snRNA, are responsible for three rare recessive developmental diseases, namely Taybi-Linder/MOPD1, Roifman and Lowry-Wood syndromes. Next-generation sequencing of clinically heterogeneous cohort...

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Detalles Bibliográficos
Autores principales: Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Benetollo, Claire, Saccaro, Clément, Guguin, Justine, Sala, Gabriel, Cologne, Audric, Delous, Marion, Lesca, Gaetan, Padgett, Richard A., Leutenegger, Anne-Louise, Lacroix, Vincent, Edery, Patrick, Mazoyer, Sylvie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7337319/
https://www.ncbi.nlm.nih.gov/pubmed/32628740
http://dx.doi.org/10.1371/journal.pone.0235655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7337319/
https://www.ncbi.nlm.nih.gov/pubmed/32628740
http://dx.doi.org/10.1371/journal.pone.0235655

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