ATM mutation

Species: Human (Taxid: 9606)
Factor:
Manipulation: Loss-of-Function, Mutation
Effect:

Individuals with ataxia-telangiectasia (AT) have a decreased lifespan, with a maximum of 52 years [3864931].


References:
  • 3864931: Ataxia-telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. Proceedings of a conference. Solvang, California, January 16-20, 1984.




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