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Cooper, D.N., Krawczak, M., Polychronakos, C., Tyler-Smith, C. and Kehrer-Sawatzk, H. (2013) Where Genotype Is Not Predictive of Phenotype: Towards an Understanding of the Molecular Basis of Reduced Penetrance in Human Inherited Disease. Human Genetics, 132, 1077-1130.
https://doi.org/10.1007/s00439-013-1331-2

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