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Article

Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

Journal of child neurology - 1 Apr 2015

Liu Qing, Huang Yan, Zhang Mingrong, Wang Lian Qing, Guo Xia Nan, Si Nuo, Qi Zhan, Zhou Xiang Qin, Cui Li-ying

Abstract excerpt

Tuberous sclerosis complex is an autosomal dominant disorder characterized by hamartomas in multiple organ systems. Mutations in the 2 large genes TSC1 and TSC2 have been demonstrated to be associated with tuberous sclerosis complex by various mutation screening methods. Targeted next-generation sequencing for genetic analysis is performed in the current study and is proved to be less cost, labor, and time...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24789117
DOI: 10.1177/0883073814531332

Genes

TSC2
TSC1

Variants

Provenance

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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Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.PMID 24789117Read ↗

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