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Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
PURPOSE: To determine if mosaic tuberous sclerosis complex (TSC) can be stratified into subtypes that correspond with prognosis and extent of disease. METHODS: Next-generation sequencing of skin tumor and other samples was used to identify patients with mosaic pathogenic variants in TSC1 or TSC2. Ex...
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| 出版年: | Genet Med |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7875483/ https://ncbi.nlm.nih.gov/pubmed/31114024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0520-3 |
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