Venus: Elucidating the impact of amino acids 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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Bibliographic Details
Main Authors: Ferla, MP, Pagnamenta, AT, Koukouflis, L, Taylor, JC, Marsden, BD
Format: Journal article
Language:English
Published: Elsevier 2022

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