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Article

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Brain pathology (Zurich, Switzerland) - 1 Nov 2010

Qin Wei, Chan Jennifer A, Vinters Harry V, Mathern Gary W, Franz David N, Taillon Bruce E, Bouffard Pascal, Kwiatkowski David J

Abstract excerpt

Tuberous sclerosis complex (TSC) is an often severe neurocutaneous syndrome. Cortical tubers are the predominant neuropathological finding in TSC, and their number and location has been shown to correlate roughly with the severity of neurologic features in TSC. Past studies have shown that genomi...

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Source

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Identifiers

PMID: 20633017
DOI: 10.1111/j.1750-3639.2010.00416.x
PMCID: PMC2951479

Genes

TSC2
TSC1
KRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20633017-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.PMID 20633017Read ↗

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