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Haploinsufficiency

Definition(s)

The situation in which an individual who is heterozygous for a certain gene mutation or hemizygous at a particular locus, often due to a deletion of the corresponding allele, is clinically affected because a single copy of the normal gene is incapable of providing sufficient protein production as to assure normal function: Definition from: GeneReviews from the University of Washington and the National Center for Biotechnology Information


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