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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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Autori principali: Stone, Eric A., Sidow, Arend
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2005
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Accesso online: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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