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[Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex].

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

Huang Chao, Zhang Qin, Xue Ying, Li Hong, Wang Ting

Abstract excerpt

OBJECTIVE: To explore the genetic basis for Chinese pedigree affected with tuberous sclerosis complex (TSC). METHODS: The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes. RESULTS: The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene. The same variant was not found among his family members and the fetus during...

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PMID: 33565070
DOI: 10.3760/cma.j.cn511374-20200331-00227

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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