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Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation
Exploring the functional effect of a non-synonymous coding variant at the protein level requires multiple pieces of information to be interpreted appropriately. This is particularly important when embarking on the study of a potentially pathogenic variant linked to a rare or monogenic disease. Where...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9742853/ https://www.ncbi.nlm.nih.gov/pubmed/35662467 http://dx.doi.org/10.1016/j.jmb.2022.167567 |