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[Analysis of clinical features and genetic variants in a Chinese pedigree affected with tuberous sclerosis].

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

Mi Haiyan, Chen Yongjun, Qi Shilin, Liu Xijin, Li Min, Shen Yang, Liu Shiyang

Abstract excerpt

OBJECTIVE: To analyze the clinical features of a Chinese pedigree affected with tuberculosis sclerosis and explore its molecular pathogenesis. METHODS: Clinical data of the proband and members of his pedigree were collected. Whole exome sequencing was carried out to detect variants of the TSC1 and TSC2 genes. Candidate variants was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The proband and...

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PMID: 33834466
DOI: 10.3760/cma.j.cn511374-20200519-00355

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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