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Functional analysis of naturally occurring amino acid substitutions in human IFN-γR1

✍ Scribed by Diederik van de Wetering; Roelof A. de Paus; Jaap T. van Dissel; Esther van de Vosse


Book ID
116757614
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
873 KB
Volume
47
Category
Article
ISSN
0161-5890

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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