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Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity
We find that the degree of impairment of protein function by missense variants is predictable by comparative sequence analysis alone. The applicable range of impairment is not confined to binary predictions that distinguish normal from deleterious variants, but extends continuously from mild to seve...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2005
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1172042/ https://ncbi.nlm.nih.gov/pubmed/15965030 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.3804205 |
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