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注意：仅列出部分参考文献，下载原文获取全部文献信息。Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
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Sensitive quantitative detection of somatic mosaic mutation in double cortex syndrome
John A. Damiano et al.
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Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome
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SCIENTIFIC REPORTS (2016)
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Clinical utility gene card for: Tuberous sclerosis complex (TSC1, TSC2)
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EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
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Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
SF Tavazoie et al.
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KS An et al.
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mTOR cascade activation distinguishes tubers from focal cortical dysplasia
M Baybis et al.
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AK Hodges et al.
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