The genomic landscape of tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR...

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Udgivet i:Nat Commun
Main Authors: Martin, Katie R., Zhou, Wanding, Bowman, Megan J., Shih, Juliann, Au, Kit Sing, Dittenhafer-Reed, Kristin E., Sisson, Kellie A., Koeman, Julie, Weisenberger, Daniel J., Cottingham, Sandra L., DeRoos, Steven T., Devinsky, Orrin, Winn, Mary E., Cherniack, Andrew D., Shen, Hui, Northrup, Hope, Krueger, Darcy A., MacKeigan, Jeffrey P.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5481739/
https://ncbi.nlm.nih.gov/pubmed/28643795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms15816
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