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Cooper, D.N., Chen, J., Ball, E.V., Howells, K., Mort, M., Philips, A.D., Chuzhanova, N., Krawczak, M., Kehrer- Sawatzki, H. and Stenson, P.D. (2010) Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation, 31, 631-655. doi:10.1002/humu.21260

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