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Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes
When present in coding regions, tandem repeats (TRs) may have large effects on protein structure and function contributing to health and disease. We use a family-based design to identify de novo TRs and assess their impact at the population level in 148,607 European ancestry participants from the UK...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744822/ https://www.ncbi.nlm.nih.gov/pubmed/36509785 http://dx.doi.org/10.1038/s41467-022-35423-x |