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Roca, X., Olson, A. J., Rao, A. R., Enerly, E., Kristensen, V. N., Borresen-Dale, A. L., Andresen, B. S., Krainer, A. R., Sachidanandam, R. (January 2008) Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res, 18 (1). pp. 77-87.

Wimmer, K., Roca, X., Beiglbock, H., Callens, T., Etzler, J., Rao, A. R., Krainer, A. R., Fonatsch, C., Messiaen, L. (June 2007) Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5 ' splice-site disruption. Human Mutation, 28 (6). pp. 599-612. ISSN 1059-7794