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[Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex].

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

Liu Linli, Yu Chunshui, Yang Herong, Lu Qinglian, Ouyang Fei, Liu Tingting

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient diagnosed with tuberous sclerosis complex (TSC). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect potential variant, and the result was verified by Sanger sequencing. RESULTS: The patient was found to harbor a heterozygous c.1053delG...

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PMID: 34487535
DOI: 10.3760/cma.j.cn511374-20200610-00429

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