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Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
Protein-truncating variants can have profound effects on gene function and are critical for clinical genome interpretation and generating therapeutic hypotheses, but their relevance to medical phenotypes has not been systematically assessed. Here, we characterize the effect of 18,228 protein-truncat...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915386/ https://www.ncbi.nlm.nih.gov/pubmed/29691392 http://dx.doi.org/10.1038/s41467-018-03910-9 |