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Chong, J.X., Buckingham, K.J., Jhangiani, S.N., Boehm, C., Sobreira, N., Smith, J.D., et al. (2015) The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. The American Journal of Human Genetics, 97, 199-215.
https://doi.org/10.1016/j.ajhg.2015.06.009

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