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The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene’s tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating varia...
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| Pubblicato in: | PLoS Comput Biol |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Public Library of Science
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4671652/ https://ncbi.nlm.nih.gov/pubmed/26642228 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pcbi.1004647 |
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