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Article

TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.

Biochemical Society transactions - 1 Jun 2003

Sampson J R

Abstract excerpt

The tuberous sclerosis complex genes TSC1 and TSC2 were first identified by positional cloning strategies in the heritable human disorder tuberous sclerosis. They encode previously unknown proteins, termed hamartin and tuberin respectively, that form a functional complex. The phenotypic manifestations of tuberous sclerosis are extremely diverse and suggest normal roles for TSC1 and TSC2 in regulating the growth,...

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Source

Identifiers

PMID: 12773162
DOI: 10.1042/bst0310592

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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