: MeSH: Haploinsufficiency

... > Genetic Variation > Mutation > Allelic Imbalance > Loss of Heterozygosity > Haploinsufficiency

Genetic Phenomena > Genotype > Gene Dosage > Haploinsufficiency

Haploinsufficiency

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.

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