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Most monogenic disorders are caused by mutations altering protein folding free energy
Revealing the molecular effect that pathogenic missense mutations cause on the corresponding protein is crucial for developing therapeutic solutions. This is especially important for monogenic diseases since, for most of them, there is no treatment available, while typically, the treatment should be...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Journal Experts
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602188/ https://www.ncbi.nlm.nih.gov/pubmed/37886551 http://dx.doi.org/10.21203/rs.3.rs-3442589/v1 |