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TSC1 and TSC2 Gene Mutations in Chinese Tuberous Sclerosis Complex Patients Clinically Characterized by Epilepsy.

Genetic testing and molecular biomarkers - 1 Jan 2020

He Jing, Zhou Wenjing, Shi Jie, Lin Jiuluan, Zhang Bingqing, Sun Zhaohui

Abstract excerpt

Objective: Tuberous sclerosis complex (TSC) is a multisystem disease. Variants in the TSC1 and TSC2 genes have been reported to be associated with TSC and are considered pathogenic. The purpose of this study was to determine the genetic mutations and expression patterns of TSC1 and TSC2 in 21 Chinese patients suffering from TSC who were clinically characterized by epilepsy. Methods: Peripheral blood samples were...

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PMID: 31855466
DOI: 10.1089/gtmb.2019.0094

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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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