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[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2021

Niu Yuping, Huang Sexin, Xu Peiwen, Li Jie, Gao Ming, Chen Xiaowei, Chu Hongxia, Gao Yuan

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient with tuberous sclerosis complex. METHODS: Genomic DNA was extracted from peripheral blood samples from members of his family and 100 unrelated healthy controls. The proband was subjected to next-generation sequencing, and candidate variant was confirmed by multiple ligation-dependent probe amplification (MLPA) and Sanger sequencing. Reverse transcription-PCR...

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PMID: 34096024
DOI: 10.3760/cma.j.cn511374-20200211-00072

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