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Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disorders

BACKGROUND: CDK10 is a poorly known cyclin M (CycM)‐dependent kinase. Loss‐of‐function mutations in the genes encoding CycM or CDK10 cause, respectively, STAR or Al Kaissi syndromes, which present a constellation of malformations and dysfunctions. Most reported mutations abolish gene expression, but...

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Detalles Bibliográficos
Autores principales: Robert, Thomas, Dock‐Bregeon, Anne‐Catherine, Colas, Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580092/
https://www.ncbi.nlm.nih.gov/pubmed/34369103
http://dx.doi.org/10.1002/mgg3.1782

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