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Evolutionary Constraint and Disease Associations of Post-Translational Modification Sites in Human Genomes
Interpreting the impact of human genome variation on phenotype is challenging. The functional effect of protein-coding variants is often predicted using sequence conservation and population frequency data, however other factors are likely relevant. We hypothesized that variants in protein post-trans...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303425/ https://www.ncbi.nlm.nih.gov/pubmed/25611800 http://dx.doi.org/10.1371/journal.pgen.1004919 |