Construct · 1 fields · 1 citations

haploinsufficiency: a standalone construct

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Genetics

the situation in which one working copy of a gene is not enough to maintain the normal phenotype, so loss of one copy causes disease.

In genetics, haploinsufficiency refers to the situation in which one working copy of a gene is not enough to maintain the normal phenotype, so loss of one copy causes disease. This meaning comes from Huang (2010) in PLoS Genetics.[1]

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Nearby constructs

loss2 fields · 3 citationsjingle · one word, two constructs normal3 fields · 7 citationsjingle · one word, three constructs phenotype4 fields · 4 citationsjingle · one word, four constructs

References

Huang, N., Lee, I., Marcotte, E. M., & Hurles, M. E. (2010). Characterising and Predicting Haploinsufficiency in the Human Genome. PLoS Genetics, 6(10), e1001154. https://doi.org/10.1371/journal.pgen.1001154

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