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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.

Year introduced: 2011

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Tree Number(s): G05.365.590.029.530.587, G05.380.350.500

MeSH Unique ID: D057895

Entry Terms:

  • Haploinsufficiencies

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