NCI Dictionary of Genetics Terms

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The NCI Dictionary of Genetics Terms contains technical definitions for more than 200 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

disease-causing mutation
(dih-ZEEZ-KAW-sing myoo-TAY-shun)
A gene alteration that causes or predisposes an individual to a specific disease.