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Human Mutation

Researchers from University of Geneva report details of new studies and findings in the area of human mutation

Published in Genetics and Environmental Business Week, June 12th, 2008

"UniProtKB/Swiss-Prot is a manually curated knowledgebase providing information on protein sequences and functional annotation. It is part of the Universal Protein Resource (UniProt)," scientists writing in the journal Human Mutation report.

"The knowledgebase currently records a total of 32,282 single amino acid polymorphisms (SAPs) touching 6,086 human proteins (Release 53.2, 26 June 2007). Nearly all SAPs are derived from literature reports using strict inclusion criteria. For each SAP, the knowledgebase provides, apart from the position of the mutation and the resulting change in amino acid,...

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