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[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2022

Liu Weiliang, Li Fang, He Zhixu, Ai Rong

Abstract excerpt

OBJECTIVE: To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC). METHODS: Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants of the TSC1 and TSC2 genes was detected by using targeted capture next-generation sequencing (NGS) and Sanger sequencing. RESULTS: The...

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PMID: 34964971
DOI: 10.3760/cma.j.cn511374-20201013-00716

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