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Haploinsufficiency

"Haploinsufficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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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.


expand / collapse publications
This graph shows the total number of publications written about "Haploinsufficiency" by people in UAMS Profiles by year, and whether "Haploinsufficiency" was a major or minor topic of these publications.
Bar chart showing 10 publications over 7 distinct years, with a maximum of 2 publications in 2019 and 2020 and 2022
To see the data from this visualization as text, click here.