Next-generation Sequencing (NGS)-based Genetic Testing for Tuberous Sclerosis Complex (TSC) - Highlighting on Focal Lesion Sequencing & Clinical Research Database
碩士 === 國立臺灣大學 === 分子醫學研究所 === 104 === Tuberous sclerosis complex (TSC) is an autosomal dominant disease due to causative variants at either TSC1 or TSC2. The disease-causating mutations are highly variable and 10–20% of TSC individuals have no causative variants identified after thorough conventiona...
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| Format: | Others |
| Language: | zh-TW |
| Published: |
2016
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| Online Access: | http://ndltd.ncl.edu.tw/handle/22z983 |