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tuberous sclerosis 2

Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq]

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Data Correlations | 923 studies

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Individual Studies
  • Mouse Phenotypes - Neurocutaneous syndrome

    score: 100100 | Mus musculus Mus musculus | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni…

    Source: NextBio Library/Mutation and Phenotypic data

  • Cancer census - gene mutations in cancer and other diseases

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    The Cancer Gene Census is an ongoing effort to catalogue those genes for which mutations have been causally implicated in cancer. The original census and analysis was published in Nature Reviews Cancer

    Authors: P Andrew Futreal, Lachlan Coin, Mhairi Marshall et al.

    Organization: Cancer Genome Project, Human Genome Anal…

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Thought leaders and organizations working on research involving TSC2.

  • David J Kwiatkowski
  • Brendan D Manning
  • Ken Inoki
  • Kun-Liang Guan
  • Pier Paolo Pandolfi
  • Mario Negri Institute for Pharmacological Research
  • Duke University
  • Cardiff University
  • Medical University of Vienna
  • University of Michigan
  • University of California
  • Children's Hospital Boston
  • Sloan-Kettering Institute

News | 3 stories

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