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Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants
Missense variants are present amongst the healthy population, but some of them are causative of human diseases. A classification of variants associated with “healthy” or “diseased” states is therefore not always straightforward. A deeper understanding of the nature of missense variants in health and...
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| Publicat a: | PLoS Biol |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Public Library of Science
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110273/ https://ncbi.nlm.nih.gov/pubmed/33909605 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pbio.3001207 |
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