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Glossary Genetics / Term

haploinsuffiency

A situation in which the protein produced by a single copy of an otherwise normal gene is not sufficient to assure normal function.

Dr. Leslie Biesecker, of the National Human Genome Research Institute's Laboratory of Genetic Disease Research, describes haploinsufficiency.

Related terms: gene, protein.

Permanent link haploinsuffiency - Modification date 2020-01-16 - Creation date 2020-01-16


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