In silico functional profiling of human
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Matthew Mort; Uday S. Evani; Vidhya G. Krishnan; Kishore K. Kamati; Peter H. Bae
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Article
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2010
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John Wiley and Sons
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English
β 587 KB
An important challenge in translational bioinformatics is to understand how genetic variation gives rise to molecular changes at the protein level that can precipitate both monogenic and complex disease. To this end, we compiled datasets of human diseaseassociated amino acid substitutions (AAS) in t