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Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

Functional variomics provides the foundation for personalized medicine by linking genetic variation to disease expression, outcome and treatment, yet its utility is dependent on appropriate assays to evaluate mutation impact on protein function. To fully assess the effects of 106 missense and nonsen...

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Detalles Bibliográficos
Autores principales:	Post, Kathryn L., Belmadani, Manuel, Ganguly, Payel, Meili, Fabian, Dingwall, Riki, McDiarmid, Troy A., Meyers, Warren M., Herrington, Caitlin, Young, Barry P., Callaghan, Daniel B., Rogic, Sanja, Edwards, Matthew, Niciforovic, Ana, Cau, Alessandro, Rankin, Catharine H., O’Connor, Timothy P., Bamji, Shernaz X., Loewen, Christopher J. R., Allan, Douglas W., Pavlidis, Paul, Haas, Kurt
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190743/ https://www.ncbi.nlm.nih.gov/pubmed/32350270 http://dx.doi.org/10.1038/s41467-020-15943-0

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