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Characterising and Predicting Haploinsufficiency in the Human Genome
Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease studies have identified several hundred haploinsufficient (HI) genes. We have compiled a map of 1,079 haplosufficient (HS) genes by systemat...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science
2010
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2954820/ https://ncbi.nlm.nih.gov/pubmed/20976243 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1001154 |
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