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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...

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Detalles Bibliográficos
Autores principales: Ferla, Matteo P., Pagnamenta, Alistair T., Koukouflis, Leonidas, Taylor, Jenny C., Marsden, Brian D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
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