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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110273/ https://www.ncbi.nlm.nih.gov/pubmed/33909605 http://dx.doi.org/10.1371/journal.pbio.3001207 |