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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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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2009
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| Assuntos: | |
| Acesso em linha: | 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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