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Article

A reliable cell-based assay for testing unclassified TSC2 gene variants.

European journal of human genetics : EJHG - 1 Mar 2009

Coevoets Ricardo, Arican Sermin, Hoogeveen-Westerveld Marianne, Simons Erik, van den Ouweland Ans, Halley Dicky, Nellist Mark

Abstract excerpt

Tuberous sclerosis complex (TSC) is characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene or the TSC2 gene. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR). We have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 18854862
DOI: 10.1038/ejhg.2008.184
PMCID: PMC2986163

Genes

TSC2
TSC1

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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