Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

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.

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.


This graph shows the total number of publications written about "Haploinsufficiency" by people in Harvard Catalyst Profiles by year, and whether "Haploinsufficiency" was a major or minor topic of these publication.
Bar chart showing 125 publications over 10 distinct years, with a maximum of 22 publications in 2017
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.