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Concept Breadcrumbs

Preferred Term:

haploinsufficiency

Definition:
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.
Concept Schemes:
NALT Full
URI:
https://lod.nal.usda.gov/nalt/324466
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RDF/XMLCreated 2018-09-18, last modified 2018-11-14