Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone

Most of the ATM variants associated with Ataxia Telangiectasia are still classified as variants with uncertain significance. Ataxia Telangiectasia is a multisystemic disorder characterized by “typical” and “atypical” phenotypes, with early-onset and severe symptoms or with late-onset and mild sympto...

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Detalles Bibliográficos
Autores principales: Biagiotti, Sara, Barone, Ambra, Aliano, Mattia Paolo, Federici, Giulia, Malatesta, Marco, Caputi, Caterina, Soddu, Silvia, Leuzzi, Vincenzo, Chessa, Luciana, Magnani, Mauro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573154/
https://www.ncbi.nlm.nih.gov/pubmed/34759960
http://dx.doi.org/10.3389/fgene.2021.759467

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