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Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

Cornelia de Lange syndrome is a multisystem developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The associated phenotype is generally assumed to be the consequence of aberrant transcriptional regulation. Recently, we identified a missense mutation in B...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Olley, Gabrielle, Pradeepa, Madapura M., Grimes, Graeme R., Piquet, Sandra, Polo, Sophie E., FitzPatrick, David R., Bickmore, Wendy A., Boumendil, Charlene
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8149872/
https://ncbi.nlm.nih.gov/pubmed/34035299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-23500-6
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