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Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Variants predicted to result in the loss of function of human genes have attracted interest because of their clinical impact and surprising prevalence in healthy individuals. Here, we present ALoFT (annotation of loss-of-function transcripts), a method to annotate and predict the disease-causing pot...
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| Publicado no: | Nat Commun |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5575292/ https://ncbi.nlm.nih.gov/pubmed/28851873 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-017-00443-5 |
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