Phenomena and Processes [G] » Genetic Phenomena [G05] » Genetic Variation » Mutation » Allelic Imbalance » Loss of Heterozygosity » Haploinsufficiency
Phenomena and Processes [G] » Genetic Phenomena [G05] » Genotype » Gene Dosage » Haploinsufficiency
Description
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. MeSH
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