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Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecular mechanisms underlying human genetic disease. While there has been much focus on how mutations can...

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Detalles Bibliográficos
Autores principales: Gerasimavicius, Lukas, Livesey, Benjamin J., Marsh, Joseph A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259657/
https://www.ncbi.nlm.nih.gov/pubmed/35794153
http://dx.doi.org/10.1038/s41467-022-31686-6

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