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Lalani, S.R., Safiullah, A.M., Fernbach, S.D., Harutyunyan, K.G., Thaller, C., Peterson, L.E., McPherson, J.D., Gibbs, R.A., White, L.D., Hefner, M., Davenport, S.L., Graham, J.M., Bacino, C.A., Glass, N.L., Towbin, J.A., Craigen, W.J., Neish, S.R., Lin, A.E. and Belmont, J.W. (2006) Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation. The American Journal of Human Genetics, 78, 303-314.
http://dx.doi.org/10.1086/500273

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