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Natural human knockouts and the era of genotype to phenotype
Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent identification of human knockouts along the entire spectrum of health and disease by next-generation sequencing promises to unlock their ful...
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| Publicado no: | Genome Med |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4448306/ https://ncbi.nlm.nih.gov/pubmed/26029266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0173-z |
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