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Loss-of-function variants in the genomes of healthy humans
Genetic variants predicted to seriously disrupt the function of human protein-coding genes—so-called loss-of-function (LOF) variants—have traditionally been viewed in the context of severe Mendelian disease. However, recent large-scale sequencing and genotyping projects have revealed a surprisingly...
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| Main Authors: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Oxford University Press
2010
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2953739/ https://ncbi.nlm.nih.gov/pubmed/20805107 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq365 |
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