Tuberous Sclerosis Complex (TSC): REDCap Database Establishment and Next-generation Sequencing (NGS)-based Genetic Testing
碩士 === 國立臺灣大學 === 分子醫學研究所 === 106 === Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant disease due to germline disease-causing variants in either TSC1 or TSC2 gene, and may develop multisystem harmartomas. However, 10%-25% of TSC patients remain genetically undiagnosed after conventiona...
| Main Authors: | , |
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| Other Authors: | |
| Format: | Others |
| Language: | zh-TW |
| Published: |
2018
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| Online Access: | http://ndltd.ncl.edu.tw/handle/t537nv |