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A reliable cell-based assay for testing unclassified TSC2 gene variants

Tuberous sclerosis complex (TSC) is characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene or the TSC2 gene. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex...

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Autores principales: Coevoets, Ricardo, Arican, Sermin, Hoogeveen-Westerveld, Marianne, Simons, Erik, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986163/
https://ncbi.nlm.nih.gov/pubmed/18854862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.184
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